Zobrazeno 1 - 10
of 16
pro vyhledávání: '"CLM Marcelis"'
Autor:
B Jug, X Iriart, A M Maceira Gonzalez, P Caravaca, L Capotosto, G Di Salvo, A Nemes, K Wdowiak-Okrojek, G Novo, R Enache, C Goffredo, M Lembo, E Ako, M Cameli, M Liccardo, OA Enescu, A Hubert, S Ranjbar, T Unkun, G Alonso Salinas, M Karvandi, B Goebel, R Ladeiras-Lopes, J Kochanowski, JJ Van Zalen, VA Kuznetsov, F Bandera, B Cifra, R Aghamohammadzadeh, B Shivalkar, J F Carvalho, K Kupczynska, E Cambronero Cortinas, O Tereshina, O Gonzalez Fernandez, P Sormani, C Ferrera Duran, F D'ascenzi, GJ King, D Peluso, V Ferferieva, I Ikonomidis, J Mesquita, MV Krestjyaninov, K Domingues, L Reis, B F Lourenco Marmelo, F Tarando, J Y Cho, M Kubik, M Mielczarek, A R Godinho, D H F Gommans, C De Gregorio, M Marchel, D M Raafat, F Ancona, G Tamborini, D Fasano, O De Diego Soler, P Aruta, G Palmiero, AAM Farrag, R Zilberszac, S A Gao, M Santos, T E Chalbia, YJ Lim, A Borowiec, K Gillis, I Fabiani, C Marini, M S Qasem, S T Roos, A Sirtautas, G Nucifora, R Acar, G Krljanac, G Pontone, A Azoz, M Mandour Ali, R Sattarzadeh Badkoubeh, A De La Rosa Riestra, E Wellnhofer, V Illatopa, K Smarz, M Cikes, S F De Marchi, A Shetye, JH Park, A B Reid, D Rodriguez Munoz, M G Andreassi, A Toth, M Chinali, P G Dinis, A Angelis, C Gonzalez Matos, S Colunga Blanco, A Garcia Campos, E Capin Sampedro, C Corros Vicente, M Martin Fernandez, V Leon Arguero, A Fidalgo Arguelles, E Velasco Alonso, F Lopez Iglesias, JM De La Hera Galarza, M Chaparro-Munoz, A Recio-Mayoral, C Vlachopoulos, N Ioakeimidis, I Felekos, M Abdelrasoul, K Aznaouridis, C Chrysohoou, G Rousakis, K Aggeli, D Tousoulis, AC Faustino, L Paiva, A Fernandes, M Costa, MC Cachulo, L Goncalves, F Emma, G Rinelli, C Esposito, A Franceschini, A Doyon, F Raimondi, F Schaefer, G Pongiglione, MC Mateucci, H Vago, C Juhasz, C Janosa, V Oprea, OH Balint, A Temesvari, T Simor, K Kadar, B Merkely, R M Bruno, A Borghini, F Stea, L Gargani, A Mercuri, R Sicari, E Picano, C Lozano Granero, A Carbonell San Roman, JL Moya Mur, C Fernandez-Golfin, J Moreno Planas, S Fernandez Santos, E Casas Rojo, A Hernandez-Madrid, JL Zamorano Gomez, K Pearce, W Gamlin, C Miller, M Schmitt, IW Seong, KH Kim, MJ Kim, HO Jung, IS Sohn, SM Park, GY Cho, JO Choi, SW Park, SA Nazir, JN Khan, A Singh, P Kanagala, I Squire, GP Mccann, D Di Lisi, MC Meschisi, V Brunco, G Badalamenti, E Bronte, A Russo, S Novo, M Von Tscharner, S Urheim, S Aakhus, C Seiler, S Schmalholz, T Biering-Sorensen, S Cheng, S Oparil, J Izzo, B Pitt, SD Solomon, B Zaborska, T Jaxa-Chamiec, M Tysarowski, A Budaj, F Cordova, O Aguirre, S Sanabria, J Ortega, G Romeo, M Perazzolo Marra, F Tona, G Famoso, E Pigatto, F Cozzi, S Iliceto, LP Badano, C Kriatselis, JH Gerds-Li, M Kropf, B Pieske, M Graefe, P Martinez Santos, E Batlle Lopez, I Vilacosta, B Sanchez Sauce, E Espana Barrio, J Jimenez Valtierra, R Campuzano Ruiz, J Alonso Bello, MD Martin Rios, M Farrashi, H Abtahi, H Sadeghi, P Sadeghipour, A Tavoosi, TA Abdel Rahman, LA Mohamed, HM Maghraby, IM Kora, FR Abdel Hameed, MN Ali, A Al Shehri, A Youssef, A Gad, M Alsharqi, L Alsaikhan, D Andreini, C Rota, M Guglielmo, S Mushtaq, A Baggiano, V Beltrama, A Solbiati, AI Guaricci, M Pepi, D Trifunovic, D Sobic Saranovic, L Savic, I Grozdic Milojevic, M Asanin, M Srdic, M Petrovic, N Zlaic, I Mrdovic, C Dogan, S Izci, C Gecmen, M Cap, E Erdogan, C Onal, F Yilmaz, N Ozdemir, D Muser, C Tioni, D Zanuttini, G Morocutti, L Spedicato, G Bernardi, A Proclemer, R Pranevicius, N Zapustas, K Briedis, Z Valuckiene, R Jurkevicius, LJM Juffermans, V Enait, N Van Royen, AC Van Rossum, O Kamp, HASSEN Khalaf, SAKER Hitham, AS Osama, RAMI Abazid, RAHIM Guall, SHAFAT Durdan, ZYAD Mohammed, S Stella, I Rosa, M Spartera, L Italia, A Latib, A Colombo, A Margonato, E Agricola, C Scatena, C Mazzanti, L Conte, N Pugliese, V Barletta, U Bortolotti, AG Naccarato, V Di Bello, G Bala, B Roosens, S Hernot, I Remory, S Droogmans, B Cosyns, G Generati, V Labate, V Donghi, M Pellegrino, F Carbone, E Alfonzetti, M Guazzi, R Dabrowski, I Kowalik, B Firek, T Chwyczko, H Szwed, A Kawamura, S Kawano, A Zaroui, R Ben Said, M Ben Halima, N Kheder, A Farhati, S Mourali, R Mechmech, L Leite, R Martins, R Baptista, A Barbosa, N Ribeiro, A Oliveira, G Castro, M Pego, C L Polte, K Lagerstrand, Å A Johnsson, M Janulewicz, O Bech-Hanssen, H Gabriel, W Wisser, G Maurer, R Rosenhek, W El Aroussy, M Abdel Ghany, K Al Adeeb, L Ascione, G Carlomagno, C Sordelli, A Ferro, R Ascione, S Severino, P Caso, D Muraru, C Janei, M Haertel Miglioranza, G Cavalli, U Cucchini, L Badano, X Armario Bel, C Garcia-Garcia, E Ferrer Sistach, F Rueda Sobella, T Oliveras Vila, C Labata Salvador, J Serra Flores, J Lopez-Ayerbe, A Bayes-Genis, E Conte, A Gonella, L Morena, D Civelli, L Losardo, F Margaria, L Riva, M Tanga, C Carminati, M Muratori, P Gripari, S Ghulam Ali, L Fusini, C Vignati, AL Bartorelli, F Alamanni, M Montorfano, A Ismaiel, N Ali, S Amry, A Serafin, KJ Filipiak, G Opolski, G Speranza, G Ando', L Magaudda, GE Cramer, J Bakker, M Michels, HJ Dieker, MA Fouraux, CLM Marcelis, J Timmermans, MA Brouwer, MJM Kofflard, M Vasconcelos, V Araujo, P Almeida, C Sousa, F Macedo, JS Cardoso, MJ Maciel, D Voilliot, O Huttin, C Venner, A Olivier, T Villemin, R Deballon, V Manenti, Y Juilliere, C Selton-Suty, A Dabrowska-Kugacka, K Dorniak, E Lewicka, D Szalewska, M Kutniewska-Kubik, G Raczak, K H Kim, H J Yoon, H J Park, Y Ahn, M H Jeong, J G Cho, J C Park, J H Kim, E Galli, G Habib, F Schnell, M Lederlin, JC Daubert, P Mabo, E Donal, R Faria, P Magalhaes, N Marques, C Lourenco, AR Almeida, L Teles, B Picarra, O Azevedo, M Oliveira, B Marmelo, A Almeida, D Bento, I Cruz, RH Gimaev, MA Melnikova, NV Olezov, VI Ruzov, P Goncalves, M S Almeida, P Branco, M S Carvalho, H Dores, M A Gaspar, H Sousa, M J Andrade, M Mendes, G Makavos, M Varoudi, E Papadavid, I Andreadou, K Gravanis, N Liarakos, G Pavlidis, D Rigopoulos, J Lekakis, D Deluyker, V Bito, L Punzi, T Neilan, K Coen, S Gannon, K Bennet, JG Clarke, M Solari, M Focardi, D Corrado, M Bonifazi, M Henein, S Mondillo, C Gomez-Escalonilla, A De Agustin, J Egido, F Islas, P Simal, JJ Gomez De Diego, M Luaces, C Macaya, L Perez De Isla, M Zancanella, C Rusconi, F Musca, G Santambrogio, B De Chiara, P Vallerio, R Cairoli, G Giannattasio, A Moreo, C Alvarez Ortega, R Mori Junco, J Caro Codon, P Meras Colunga, I Ponz De Antonio, T Lopez Fernandez, S Valbuena Lopez, M Moreno Yanguela, JL Lopez-Sendon, E Surkova, C Bonanad-Lozano, MP Lopez-Lereu, JV Monmeneu-Menadas, J Gavara, E De Dios, A Paya-Chaume, D Escribano-Alarcon, FJ Chorro-Gasco, V Bodi-Peris, BW Michalski, D Miskowiec, JD Kasprzak, P Lipiec, G Morgado, D Caldeira, I Joao, A R Almeida, L Lopes, P Fazendas, C Cotrim, H Pereira, C De Block, D Buys, R Salgado, C Vrints, L Van Gaal, C Mctear, RB Irwin, A Dragulescu, M Friedberg, L Mertens, DV Krinochkin, EI Yaroslavskaya, EH Zaharova, GS Pushkarev, C Sugihara, NR Patel, AN Sulke, GW Lloyd, R Piatkowski, P Scislo, M Grabowski, H Roland, A Hamadanchi, S Otto, C Jung, A Lauten, HC Figulla, TC Poerner, F Sampaio, P Fonseca, R Fontes-Carvalho, M Pinho, AS Campos, P Castro, C Fonseca, J Ribeiro, V Gama, R Heck, A Hamdanchi, HR Figulla, M Ghaffaripour Jahromi, R Hinojar, C Fernandez Golfin, A Esteban, M Pascual-Izco, A Garcia-Martin, JJ Jimenez-Nacher, JL Zamorano, RB Bakal, C Kaymaz, V Galand, D Matelot, C Leclercq, F Carre, BC Suran, AD Margulescu, RC Rimbas, C Siliste, D Vinereanu, P Nocerino, AC Urso, A Borrino, C Carbone, P Follero, C Ciardiello, L Prato, G Salzano, F Marino, A Ruspetti, S Sparla, C Di Tommaso, F Loiacono, J Porter, M Walker, F Lo Iudice, R Esposito, C Santoro, S Cocozza, R Izzo, N De Luca, G De Simone, B Trimarco, M Galderisi, F Gervasi, G Patti, S Mega, M Bono, G Di Sciascio, A Buture, R Badea, P Platon, I Ghiorghiu, R Jurcut, IM Coman, BA Popescu, C Ginghina, M Lunetta, MS Spoto, AM Lo Vi, G Pensabene, P Carita, G Coppola, P Assennato, A Shim, P Wejner-Mik, K Havasi, P Domsik, A Kalapos, T Forster, GA Piros, C Lengyel, A Orosz, Z Bulbul, Z Issa, A Al Sehly, V Pergola, S Oufi, Y Conde, E Cimino, E Rinaldi, R Ashurov, S Ricci, M Pergolini, A Vitarelli, JE Lujan Valencia, M Chaparro, A Garcia-Guerrero, MJ Cristo Ropero, A Izquierdo Bajo, L Madrona, JV Monmeneu, B Igual, P Lopez Lereu, MP Garcia, W Selmi, Z Jalal, JB Thambo, D Kosuta, Z Fras
Publikováno v:
European Heart Journal – Cardiovascular Imaging. 16:S183-S209
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7716dbfa2b08d89a2e6b46ea44f9b201
https://doi.org/10.1093/ehjci/jev275
https://doi.org/10.1093/ehjci/jev275
Autor:
Teunissen MWA; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands., Lewerissa E; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., van Hugte EJH; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Wang S; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Koolen DA; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Marcelis CLM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Brilstra E; Department of Human Genetics, University Medical Center Utrecht, Utrecht, CX 3584, The Netherlands., Howe JL; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Scherer SW; The Centre for Applied Genomics and Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, ON M5S 3H7, Canada., Le Guillou X; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France., Bilan F; Department of Medical Genetics, Centre Hospitalier Universitaire de Poitiers, Poitiers 86000, France.; Laboratory of Experimental and Clinical Neurosciences University of Poitiers, INSERM U1084, Poitiers 86000, France., Primiano M; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA., Roohi J; Department of Clinical Genetics, Morgan Stanley Children's Hospital of New York-Presbytarian, New York, NY, 10032, USA.; Clinical Genetics, Kaiser Permanente Mid-Atlantic Permanente Medical Group, Rockville, MD 20852, USA., Piton A; Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôspitaux Universitaire de Strasbourg, Strasbourg, BP 426 67091, France.; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France., de Saint Martin A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Baer S; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67400, France.; Department of Pediatric Neurology, Strasbourg University Hospital, Hôspital de Hautepierre, Strasbourg, BP 426 67091, France., Seiffert S; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, Tuebingen, 72076, Germany., Platzer K; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Jamra RA; Institute of Human Genetics, University Medical Center Leipzig, Leipzig 04103, Germany., Syrbe S; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Doering JH; Division of Paediatric Epileptology, Centre for Paediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg 69120, Germany., Lakhani S; Department of neurogenetics, Weill Cornell Medicine, Brain and Mind Research Institute, New York, NY, 10065, USA., Nangia S; Department of Pediatrics, Division of Child Neurology, New York Presbyterian Hospital-Weill Cornell Medical Center, New York, NY, 10032, USA., Gilissen C; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Vermeulen RJ; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands., Rouhl RPW; Department of Neurology, Maastricht University Medical Center, Maastricht, HX 6229, The Netherlands.; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands., Brunner HG; Academic Center for Epileptology Kempenhaeghe/Maastricht University Medical Center, Heeze 5591 VE, The Netherlands.; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.; School for Mental Health and Neuroscience, Maastricht University, Maastricht, MD 6200, the Netherlands.; Department of Clinical Genetics and GROW School for Oncology and Developmental Biology, Maastricht University Medical Centre+, Maastricht, MD 6299, the Netherlands., Willemsen MH; Department of Human Genetics, Radboud University Medical Center, Nijmegen, GA 6525, the Netherlands., Nadif Kasri N; Department of Human Genetics, Radboudumc, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, HB 6500, the Netherlands.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Jul 04; Vol. 32 (14), pp. 2373-2385.
Autor:
Maia N; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal., Ibarluzea N; Biocruces Bizkaia Health Research Institute, Barakaldo, Spain., Misra-Isrie M; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Koboldt DC; Steve and Cindy Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA., Marques I; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal., Soares G; Unidade de Genética Médica, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto), Porto, Portugal., Santos R; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal., Marcelis CLM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Keski-Filppula R; Department of Clinical Genetics, Oulu University Hospital, Medical Research Center Oulu and PEDEGO Research Unit, University of Oulu, Oulu, Finland., Guitart M; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain., Gabau Vila E; Paediatric Unit, ParcTaulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí, I3PTUniversitat Autònoma de Barcelona, Sabadell, Spain., Lehman A; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Hickey S; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio, USA.; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Mori M; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA.; Nationwide Children's Hospital, Columbus, Ohio, USA., Terhal P; Division Laboratories, Pharmacy and Biomedical Genetics, Wilhelmina Children's Hospital, Utrecht, The Netherlands., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Chhouk BH; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Yeh RC; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Neil JE; Division of Genetics and Genomics and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, Massachusetts, USA., Abu-Libde B; Makassed Hospital, Jerusalem, Israel., Kleefstra T; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Elting MW; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., Császár A; Paediatric Ward, Hospital of Zala County, Zalaegerszeg, Hungary., Kárteszi J; Genetic Counselling, Hospital of Zala County, Zalaegerszeg, Hungary., Bessenyei B; Division of Clinical Genetics, Department of Laboratory Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary., van Bokhoven H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands., Jorge P; Unidade de Genética Molecular, Centro de Genética Médica Doutor Jacinto de Magalhães (CGM), Centro Hospitalar Universitário do Porto (CHUPorto); Unit for Multidisciplinary Research In Biomedicine (UMIB), Institute of Biomedical Sciences Abel Salazar (ICBAS), and ITR - Laboratory for Integrative and Translational Research in Population Health, University of Porto, Porto, Portugal., van Hagen JM; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands., de Brouwer APM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 135-143. Date of Electronic Publication: 2022 Oct 22.
Autor:
Mingardo E; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de.; Institute for Neuroanatomy, University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de.; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany. enming@uni-bonn.de., Beaman G; Centre for Genomic Medicine, University of Manchester, Manchester, UK., Grote P; Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University, Frankfurt am Main, Germany.; Georg-Speyer-Haus, Frankfurt am Main, Germany., Nordenskjöld A; Department of Women´s and Children´s Health and Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.; Pediatric Surgery, Astrid Lindgren Children Hospital, Karolinska University Hospital, Stockholm, Sweden., Newman W; Centre for Genomic Medicine, University of Manchester, Manchester, UK., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, UK.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, UK., Eckstein M; Institute of Pathology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany.; Comprehensive Cancer Center Erlangen-EMN (CCC ER-EMN), Erlangen, Germany.; BRIDGE-Consortium Germany e.V., Mannheim, Germany., Hilger AC; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Erlangen, Germany., Dworschak GC; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Rösch W; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany., Ebert AK; Department of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany., Stein R; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany., Brusco A; Department of Medical Sciences and Medical Genetics Unit, Città della Salute e della Scienza University Hospital, University of Torino, Torino, Italy., Di Grazia M; Institute for Maternal and Child Health, IRCCS Burlo Garofalo, Trieste, Italy., Tamer A; Institute of Cardiovascular Regeneration, Centre for Molecular Medicine, Goethe University, Frankfurt am Main, Germany., Torres FM; Translational Pediatrics and Infectious Diseases, Hospital Clínico Universitario de Santiago, Santiago de Compostela, Spain., Hernandez JL; Department of Internal Medicine, Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Erben P; BRIDGE-Consortium Germany e.V., Mannheim, Germany.; Department of Urology and Urosurgery, Medical Faculty Mannheim, University of Heidelberg, Mannheim, Germany., Maj C; Institute of Genomic Statistics and Bioinformatics, University of Bonn, Bonn, Germany., Olmos JM; Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Riancho JA; Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Valero C; Department of Internal Medicine. Hospital U M Valdecilla, University of Cantabria, IDIVAL, Santander, Spain., Hostettler IC; Stroke Research Centre, University College London, Institute of Neurology, London, UK.; Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK.; Department of Neurosurgery, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Houlden H; Neurogenetics Laboratory, The National Hospital of Neurology and Neurosurgery, London, UK., Werring DJ; Stroke Research Center, Department of Brain Repair and Rehabilitation, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Schumacher J; Institute for Human Genetics, University of Marburg, Marburg, Germany., Gehlen J; Institute for Human Genetics, University of Marburg, Marburg, Germany., Giel AS; Institute for Human Genetics, University of Marburg, Marburg, Germany., Buerfent BC; Institute for Human Genetics, University of Marburg, Marburg, Germany., Arkani S; Department of Women's and Children's Health and Center for Molecular Medicine, Bioclinicum, Karolinska Institutet, Stockholm, Sweden.; Department of Urology, Danderyds Hospital, Danderyd, Sweden., Åkesson E; Division of Neurogeriatrics, Department of Neurobiology, Care Sciences and Society, Karolinska Institutet, Stockholm, Sweden.; R&D Unit, Stockholms Sjukhem, Stockholm, Sweden., Rotstein E; ME Gynecology and Reproduction Medicine, Karolinska University Hospital, and Dept of Clintec, Karolinska Institutet, Stockholm, Sweden., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany., Holmdahl G; Department of Pediatric Surgery, Queen Silvia Children's Hospital, Gothenburg, Sweden., Giorgio E; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Laboratory of Molecular Medicine and Cytogenetics, IRCCS Mondino Foundation, Pavia, Italy., Berettini A; Pediatric Urology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy., Keene D; Paediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Cervellione RM; Paediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, UK., Younsi N; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany., Ortlieb M; Department of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany., Oswald J; Department for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of Charity, Linz, Austria., Haid B; Center for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany.; Department for Pediatric Urology, Ordensklinikum Linz, Hospital of the Sisters of Charity, Linz, Austria., Promm M; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany., Neissner C; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center of Regensburg, Regensburg, Germany., Hirsch K; Division of Pediatric Urology, Department of Urology, University of Erlangen-Nürnberg, Erlangen, Germany., Stehr M; Department of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik, Nürnberg, Germany., Schäfer FM; Department of Pediatric Surgery and Urology, Klinik Hallerwiese-Cnopfsche Kinderklinik, Nürnberg, Germany.; Department of Urology and Pediatric Urology, University Hospital Erlangen, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany., Schmiedeke E; Clinic for Paediatric Surgery and Paediatric Urology, Klinikum Bremen-Mitte, Bremen, Germany., Boemers TM; Department of Pediatric Surgery and Urology, University Hospital Cologne, Cologne, Germany., van Rooij IALM; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Feitz WFJ; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Marcelis CLM; Department of Urology, Pediatric Urology Center, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Lacher M; Department of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Nelson J; Department of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands., Ure B; Center of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany., Fortmann C; Center of Pediatric Surgery Hannover, Hannover Medical School, Hannover, Germany., Gale DP; Department of Renal Medicine, University College London, London, UK., Chan MMY; Department of Renal Medicine, University College London, London, UK., Ludwig KU; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Nöthen MM; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany., Heilmann S; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany., Zwink N; Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany., Jenetzky E; Department of Child and Adolescent Psychiatry, University Medical Center of the Johannes Gutenberg University Mainz, Mainz, Germany.; Faculty of Health, School of Medicine, University of Witten/Herdecke, Witten, Germany., Odermatt B; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.; Institute for Neuroanatomy, University Hospital Bonn, University of Bonn, Bonn, Germany., Knapp M; Institute of Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany., Reutter H; Institute of Human Genetics, School of Medicine & University Hospital Bonn, University of Bonn, Bonn, Germany. Heiko.Reutter@uk-erlangen.de.; Division of Neonatology and Pediatric Intensive Care Medicine, Department of Pediatric and Adolescent Medicine, Friedrich-Alexander-University Erlangen-Nürnberg, Erlangen, Germany. Heiko.Reutter@uk-erlangen.de.
Publikováno v:
Communications biology [Commun Biol] 2022 Nov 09; Vol. 5 (1), pp. 1203. Date of Electronic Publication: 2022 Nov 09.
Autor:
van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, the Netherlands., de Walle HEK; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., van Hooijdonk KJM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, the Netherlands., de Blaauw I; Department for Pediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands., Marcelis CLM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboudumc, Nijmegen, the Netherlands., van Heijst A; Department of Pediatrics - Neonatology, Radboudumc Amalia Children's Hospital, Nijmegen, the Netherlands., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Renkema KY; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands., Broens PMA; Department of Surgery, Division of Pediatric Surgery, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Brosens E; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.; Department of Pediatric Surgery, Erasmus Medical Centre Sophia Children's Hospital, Rotterdam, the Netherlands., Sloots CEJ; Department of Pediatric Surgery, Erasmus Medical Centre Sophia Children's Hospital, Rotterdam, the Netherlands., Bergman JEH; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands., Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, the Netherlands., van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, the Netherlands.
Publikováno v:
Birth defects research [Birth Defects Res] 2020 Nov; Vol. 112 (18), pp. 1495-1504. Date of Electronic Publication: 2020 Jul 22.
Autor:
Rieke JM; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.; Department of Pediatrics, Children's Hospital Medical Center, University Hospital Bonn, Bonn, Germany., Zhang R; Institut für Biochemie und Molekularbiologie, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Braun D; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany., Yilmaz Ö; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany., Japp AS; Institute of Neuropathology, University of Bonn Medical Center, Bonn, Germany.; Institute of Pathology, University Hospital Düsseldorf, Düsseldorf, Germany., Lopes FM; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, United Kingdom., Pleschka M; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany., Hilger AC; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Department of Pediatrics, Children's Hospital Medical Center, University Hospital Bonn, Bonn, Germany., Schneider S; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, Children's Hospital Medical Center, University Hospital Bonn, Bonn, Germany., Newman WG; Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Beaman GM; Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Nordenskjöld A; Department of Women's and Children's Health, Center for Molecular Medicine, Karolinska Institute, Stockholm, Sweden.; Pediatric Surgery, Astrid Lindgren Children's Hospital, Karolinska University Hospital, Stockholm, Sweden., Ebert AK; Department of Urology and Pediatric Urology, University Hospital of Ulm, Ulm, Germany., Promm M; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, Regensburg, Germany., Rösch WH; Department of Pediatric Urology, Clinic St. Hedwig, University Medical Center Regensburg, Regensburg, Germany., Stein R; Medical Faculty Mannheim, Centre for Pediatric, Adolescent and Reconstructive Urology, University Medical Center Mannheim, Heidelberg University, Mannheim, Germany., Hirsch K; Division of Pediatric Urology, Department of Urology, University of Erlangen-Nürnberg, Erlangen, Germany., Schäfer FM; Department of Pediatric Surgery and Urology, Cnopfsche Kinderklinik, Nürnberg, Germany., Schmiedeke E; Department of Pediatric Surgery and Urology, Center for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Boemers TM; Department of Pediatric Surgery and Pediatric Urology, Children's Hospital of Cologne, Cologne, Germany., Lacher M; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Kluth D; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Gosemann JH; Department of Pediatric Surgery, University of Leipzig, Leipzig, Germany., Anderberg M; Department of Pediatric Surgery, Skane University Hospital Lund, Lund, Sweden., Barker G; Department of Women's and Children's Health, Uppsala Academic Children Hospital, Uppsala, Sweden., Holmdahl G; Department of Pediatric Surgery, Queen Silvias Children's Hospital, Gothenburg, Sweden., Läckgren G; Pediatric Urology, University Children's Hospital, Uppsala, Sweden., Keene D; Pediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Cervellione RM; Pediatric Urology, Royal Manchester Children's Hospital, Central Manchester University Hospitals NHS Foundation Trust, Manchester, United Kingdom., Giorgio E; Department of Medical Sciences, University of Torino, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Di Grazia M; Pediatric Urology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Feitz WFJ; Division of Pediatric Urology, Department of Urology, Radboudumc Amalia Children's Hospital, Nijmegen, Netherlands., Marcelis CLM; Department of Genetics, Radboud University Nijmegen Medical Center, Nijmegen, Netherlands., Van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Bökenkamp A; Emma Children's Hospital, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Beckers GMA; Department of Urology, Amsterdam University Medical Center, Vrije Universiteit Amsterdam, Amsterdam, Netherlands., Keegan CE; Division of Genetics, Department of Pediatrics, University of Michigan, Ann Arbor, MI, United States.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, United States., Sharma A; Department of Neurology, University Hospital Bonn, Bonn, Germany.; Department of Ophthalmology, University Hospital Bonn, Bonn, Germany., Dakal TC; Department of Biotechnology, Mohanlal Sukhadia University Udaipur, Udaipur, India., Wittler L; Department of Developmental Genetics, Max Planck Institute for Molecular Genetics, Berlin, Germany., Grote P; Institute of Cardiovascular Regeneration, Center for Molecular Medicine, Goethe University, Frankfurt am Main, Germany., Zwink N; Department of Pediatric and Adolescent Psychiatry and Psychotherapy, University Medical Centre, Johannes Gutenberg University of Mainz, Mainz, Germany., Jenetzky E; Department of Pediatric and Adolescent Psychiatry and Psychotherapy, University Medical Centre, Johannes Gutenberg University of Mainz, Mainz, Germany.; Institute of Integrative Medicine, Witten/Herdecke University, Herdecke, Germany., Brusco A; Department of Medical Sciences, University of Torino, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy., Thiele H; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Ludwig M; Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany., Schweizer U; Institut für Biochemie und Molekularbiologie, Universitätsklinikum Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Woolf AS; Division of Cell Matrix Biology and Regenerative Medicine, Faculty of Biology Medicine and Health, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.; Royal Manchester Children's Hospital, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, Manchester, United Kingdom., Odermatt B; Institute for Anatomy and Cell Biology, University Hospital Bonn, University of Bonn, Bonn, Germany.; Institute for Neuroanatomy, University Hospital Bonn, University of Bonn, Bonn, Germany., Reutter H; Institute of Human Genetics, University Hospital Bonn, Bonn, Germany.; Department of Neonatology and Pediatric Intensive Care, Children's Hospital Medical Center, University Hospital Bonn, Bonn, Germany.
Publikováno v:
Frontiers in cell and developmental biology [Front Cell Dev Biol] 2020 Aug 07; Vol. 8, pp. 567. Date of Electronic Publication: 2020 Aug 07 (Print Publication: 2020).
Autor:
van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Dworschak GC; Department of Pediatrics, Children's Hospital, University Hospital Bonn, Bonn, Germany.; Institute of Human Genetics, University of Bonn, Bonn, Germany., Brosens E; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands.; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands., Reutter HM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Neonatology, Children's Hospital, University Hospital Bonn, Bonn, Germany., Marcelis CLM; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Acuna-Hidalgo R; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Kurtas NE; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Steehouwer M; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Dunwoodie SL; Victor Chang Cardiac Research Institute, UNSW Sydney, Sydney, NSW, Australia., Schmiedeke E; Department of Pediatric Surgery and Urology, Centre for Child and Youth Health, Klinikum Bremen-Mitte, Bremen, Germany., Märzheuser S; Department of Pediatric Surgery, Campus Virchow Clinic, Charité University Hospital Berlin, Berlin, Germany., Schwarzer N; SoMA e.V., Self-Help Organization for People With Anorectal Malformation, Munich, Germany., Brooks AS; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands., de Klein A; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, Netherlands., Sloots CEJ; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands., Tibboel D; Department of Pediatric Surgery, Erasmus Medical Centre-Sophia Children's Hospital, Rotterdam, Netherlands., Brisighelli G; Department of Paediatric Surgery, Chris Hani Baragwanath Academic Hospital, Johannesburg, South Africa.; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Morandi A; Department of Pediatric Surgery, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Bedeschi MF; Medical Genetic Unit, Fondazione IRCCS Ca' Granda-Ospedale Maggiore Policlinico, Milan, Italy., Bates MD; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States., Levitt MA; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, Center for Colorectal and Pelvic Reconstruction, Nationwide Children's Hospital, The Ohio State University, Columbus, OH, United States., Peña A; Division of Gastroenterology and Nutrition, Dayton Children's Hospital, Dayton, OH, United States.; Department of Pediatrics, Boonshoft School of Medicine, Wright State University, Dayton, OH, United States.; Department of Surgery, International Center for Colorectal Care, Children's Hospital Colorado, University of Colorado, Aurora, CO, United States., de Blaauw I; Department of Surgery-Pediatric Surgery, Radboudumc Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, Netherlands., Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Brunner HG; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, Netherlands., van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, Netherlands., Hoischen A; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, Netherlands.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2020 Jun 23; Vol. 8, pp. 310. Date of Electronic Publication: 2020 Jun 23 (Print Publication: 2020).
Autor:
van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands., van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands.; Paediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands., Haanappel CP; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands., Marcelis CLM; Department of Human Genetics, Nijmegen, The Netherlands., Brunner HG; Department of Human Genetics, Nijmegen, The Netherlands.; Department of Clinical Genetics and School for Oncology & Developmental Biology (GROW), Maastricht University Medical Center, Maastricht, The Netherlands., Addor MC; Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland., Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain., Dias CM; Epidemiology Department, National Institute of Health Doutor Ricardo Jorge, Lisbon, Portugal., Draper ES; Department of Health Sciences, University of Leicester, Leicester, UK., Etxebarriarteun L; Department of Health, Public Health Service, Basque Government Basque Country, Vitoria-Gasteiz, Spain., Gatt M; Malta Congenital Anomalies Register, Directorate for Health Information and Research, Pietà, Malta., Khoshnood B; INSERM UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (EPOPé), Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS), DHU Risks in Pregnancy, Paris Descartes University, Paris, France., Kinsner-Ovaskainen A; European Commission, Joint Research Centre (JRC), Ispra, Italy., Klungsoyr K; Department of Global Public Health and Primary Care, University of Bergen, Bergen, Norway.; Division for Mental and Physical Health, Norwegian Institute of Public Health, Bergen, Norway., Kurinczuk JJ; National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK., Latos-Bielenska A; Department of Medical Genetics, University of Medical Sciences, Poznań, Poland., Luyt K; South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK., O'Mahony MT; Department of Public Health, Health Service Executive - South, Cork, Ireland., Miller N; National Congenital Anomaly and Rare Disease Registration Service, Public Health England, Newcastle upon Tyne, UK., Mullaney C; Department of Public Health, Health Service Executive - South East, Kilkenny, Ireland., Nelen V; Provinciaal Instituut voor Hygiene (PIH), Antwerp, Belgium., Neville AJ; Registro IMER - IMER Registry (Emilia Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara, Azienda Ospedaliero-Universitaria di Ferrara, Ferrara, Italy., Perthus I; Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France., Pierini A; Tuscany Registry of Congenital Defects (RTDC), Institute of Clinical Physiology - National Research Council / Fondazione Toscana Gabriele Monasterio, Pisa, Italy., Randrianaivo H; Register of congenital malformations of Reunion Island, CHU Réunion, St Pierre, France., Rankin J; Institute of Health & Society, Newcastle University, Newcastle, UK., Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany., Rouget F; Brittany Registry of congenital anomalies, CHU Rennes, University Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), Rennes, France., Schaub B; French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France., Tucker D; CARIS, Public Health Wales, Singleton Hospital, Swansea, UK., Wellesley D; Wessex Clinical Genetics Department, Princess Anne Hospital, Southampton, UK., Wiesel A; Department of Pediatrics, Birth Registry Mainz Model, University Medical Center of Mainz, Mainz, Germany., Zymak-Zakutnia N; OMNI-Net Ukraine Birth Defects Program and Khmelnytsky City Children's Hospital, Khmelnytsky, Ukraine., Loane M; Centre for Maternal, Fetal and lnfant Research, lnstitute of Nursing and Health Research, Ulster University, Belfast, UK., Barisic I; Centre of Excellence for Reproductive and Regenerative Medicine, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia., de Walle HEK; Department of Genetics, EUROCAT Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Bergman JEH; Department of Genetics, EUROCAT Northern Netherlands, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands., Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud university medical center (Radboudumc), Nijmegen, The Netherlands.
Publikováno v:
Birth defects research [Birth Defects Res] 2020 May 15; Vol. 112 (9), pp. 688-698. Date of Electronic Publication: 2020 Apr 22.
Autor:
van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands. Romy.vandePutte@radboudumc.nl., van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands.; Paediatric Surgery, Radboudumc Amalia Children's Hospital, Nijmegen, The Netherlands., Marcelis CLM; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands., Guo M; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands., Brunner HG; Department of Human Genetics, Radboudumc, Nijmegen, The Netherlands.; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, The Netherlands., Addor MC; Department of Woman-Mother-Child, University Medical Center CHUV, Lausanne, Switzerland., Cavero-Carbonell C; Rare Diseases Research Unit, Foundation for the Promotion of Health and Biomedical Research in the Valencian Region, Valencia, Spain., Dias CM; Epidemiology Department, National Institute of Health Doctor Ricardo Jorge, Lisbon, Portugal., Draper ES; Department of Health Sciences, University of Leicester, Leicester, UK., Etxebarriarteun L; Department of Health, Public Health Service, Basque Government Basque Country, Vitoria-Gasteiz, Spain., Gatt M; Malta Congenital Anomalies Register, Directorate for Health Information and Research, Pietà, Malta., Haeusler M; Department of Obstetrics and Gynecology, Medical University of Graz, Graz, Austria., Khoshnood B; INSERM UMR 1153, Obstetrical, Perinatal and Pediatric Epidemiology Research Team (EPOPé), Center of Research in Epidemiology and Statistics Sorbonne Paris Cité (CRESS), DHU Risks in Pregnancy, Paris Descartes University, Paris, France., Klungsoyr K; Department of Global Public Health and Primary Care, Division for Mental and Physical Health, Norwegian Institute of Public Health, University of Bergen, Bergen, Norway., Kurinczuk JJ; National Perinatal Epidemiology Unit, Nuffield Department of Population Health, University of Oxford, Oxford, UK., Lanzoni M; European Commission, Joint Research Centre (JRC), Ispra, Italy., Latos-Bielenska A; Department of Medical Genetics, Poznan University of Medical Sciences, Poznań, Poland., Luyt K; South West Congenital Anomaly Register (SWCAR), Bristol Medical School, University of Bristol, Bristol, UK., O'Mahony MT; Department of Public Health, Health Service Executive - South, Cork, Ireland., Miller N; National Congenital Anomaly and Rare Disease Registration Service, Public Health England, Newcastle upon Tyne, UK., Mullaney C; Department of Public Health, HSE South East, Lacken, Kilkenny, Ireland., Nelen V; Provinciaal Instituut voor Hygiene (PIH), Antwerp, Belgium., Neville AJ; Registro IMER - IMER Registry (Emila Romagna Registry of Birth Defects), Center for Clinical and Epidemiological Research, University of Ferrara, Azienda Ospedaliero-Universitaria di Ferrara, Ferrara, Italy., Perthus I; Auvergne registry of congenital anomalies (CEMC-Auvergne), Department of clinical genetics, Centre de Référence des Maladies Rares, University Hospital of Clermont-Ferrand, Clermont-Ferrand, France., Pierini A; Tuscany Registry of Congenital Defects (TRDC), Institute of Clinical Physiology - National Research Council/Fondazione Toscana Gabriele Monasterio, Pisa, Italy., Randrianaivo H; Register of Congenital Malformations of Reunion Island, CHU Réunion, St Pierre, France., Rankin J; Institute of Health and Society, Newcastle University, Newcastle, UK., Rissmann A; Malformation Monitoring Centre Saxony-Anhalt, Medical Faculty Otto-von-Guericke University, Magdeburg, Germany., Rouget F; Brittany Registry of Congenital Anomalies, CHU Rennes, Inserm, EHESP, Irset (Institut de recherche en santé, environnement et travail), University Rennes, Rennes, France., Schaub B; French West Indies Registry, Registre des Malformations des Antilles (REMALAN), Maison de la Femme de la Mère et de l'Enfant, University Hospital of Martinique, Fort-de-France, France., Tucker D; CARIS, Public Health Wales, Singleton Hospital, Swansea, Wales, UK., Wellesley D; Wessex Clinical Genetics Department, Princess Anne Hospital, Southampton, UK., Wiesel A; Department of Pediatrics, Birth Registry Mainz Model, University Medical Center of Mainz, Mainz, Germany., Zymak-Zakutnia N; OMNI-Net Ukraine Birth Defects Program and Khmelnytsky City Children's Hospital, Khmelnytsky, Ukraine., Loane M; Centre for Maternal, Fetal and lnfant Research, lnstitute of Nursing and Health Research, Ulster University, Belfast, Northern lreland, UK., Barisic I; Centre of Excellence for Reproductive and Regenerative Medicine, Children's Hospital Zagreb, Medical School University of Zagreb, Zagreb, Croatia., de Walle HEK; University of Groningen, University Medical Center Groningen, Department of Genetics, EUROCAT Northern Netherlands, Groningen, The Netherlands., Roeleveld N; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center (Radboudumc), Nijmegen, The Netherlands., Bergman JEH; University of Groningen, University Medical Center Groningen, Department of Genetics, EUROCAT Northern Netherlands, Groningen, The Netherlands.
Publikováno v:
Pediatric research [Pediatr Res] 2020 Feb; Vol. 87 (3), pp. 541-549. Date of Electronic Publication: 2019 Sep 09.
Autor:
O'Donnell-Luria AH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA. Electronic address: Anne.ODonnell@childrens.harvard.edu., Pais LS; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Faundes V; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de los Alimentos, Universidad de Chile, Santiago, Chile., Wood JC; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Sveden A; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Luria V; Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig 04103, Germany., Accogli A; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada; Dipartimento di Neuroscienze, Riabilitazione, Oftalmologia, Genetica Scienze Materno-Infantili, Università degli studi di Genova, 16126 Genova, Italy; IRCCS Istituto Giannina Gaslini, 16147 Genova, Italy., Amburgey K; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada., Anderlid BM; Department of Molecular Medicine and Surgery, Centre for Molecular Medicine, Karolinska Institutet, Stockholm 17176, Sweden; Department of Clinical Genetics, Karolinska University Hospital, Stockholm 17176, Sweden., Azzarello-Burri S; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland., Basinger AA; Genetics, Cook Children's Physician Network, Fort Worth, TX 76104, USA., Bianchini C; Pediatric Neurology, Neurogenetics, and Neurobiology Unit and Laboratories, Neuroscience Department, Meyer Children's Hospital, University of Florence, 50139 Florence, Italy., Bird LM; Department of Pediatrics, University of California, San Diego, San Diego, CA 92093, USA; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany., Carre W; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Ceulemans S; Division of Genetics, Rady Children's Hospital of San Diego, San Diego, CA 92123, USA., Charles P; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France., Cox H; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK., Culliton L; Department of Neurology, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA., Currò A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Demurger F; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France., Dowling JJ; Division of Neurology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto M5G 1X8, ON, Canada., Duban-Bedu B; Centre de Génétique Chromosomique, Groupement des Hôpitaux de l'Institut Catholique de Lille Hôpital Saint Vincent de Paul, 59020 Lille, France; Faculté de médecine de l'Université Catholoique de Lille, 59800 Lille, France., Dubourg C; Laboratoire de Génétique Moléculaire et Génomique, Centre Hospitalier Universitaire de Rennes, Rennes 35033, France., Eiset SE; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark., Escobar LF; St. Vincent's Children's Hospital, Indianapolis, IN 46260, USA., Ferrarini A; Medical Genetic Unit, Italian Hospital of Lugano, Lugano, Switzerland; Università della Svizzera Italiana, 6900 Lugano, Switzerland., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany., Hashim M; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Heide S; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France., Helbig KL; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Helbig I; Division of Neurology and Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, 19104 USA; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany., Heredia R; GeneDx, Gaithersburg, MD 20877, USA., Héron D; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France., Isidor B; Service de Génétique Médicale, Hôpital Hôtel-Dieu, Centre Hospitalier Universitaire de Nantes, 44093 Nantes, France., Jonasson AR; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA., Joset P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland., Keren B; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France., Kok F; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil., Kroes HY; Department of Medical Genetics, University Medical Center Utrecht, 3584 CX Utrecht, Netherlands., Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares Centre Labellisé Anomalies du Développement-Ouest, Centre Hospitalier Universitaire de Rennes, 35033 Rennes, France., Lu X; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK., Maas SM; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands., Maegawa GHB; Division of Genetics and Metabolism, Department of Pediatrics, University of Florida, FL 32610, USA., Marcelis CLM; Department of Clinical Genetics, Radboud University Medical Centre, 6525 GA Nijmegen, the Netherlands., Mark PR; Division of Medical Genetics and Genomics, Spectrum Health, Grand Rapids, MI 49544, USA., Masruha MR; Department of Neurology and Neurosurgery, Universidade de Federal de São Paulo, São Paulo 04023, Brazil., McLaughlin HM; GeneDx, Gaithersburg, MD 20877, USA., McWalter K; GeneDx, Gaithersburg, MD 20877, USA., Melchinger EU; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, M5G 1X8, Canada., Nava C; Department of Genetics, Centre de Référence Déficiences Intellectuelles de Causes Rares, Pitié-Salpêtrière Hospital, Assistance Publique-Hôpitaux de Paris, Paris 75013, France; Groupe de Recherche Clinique Déficience Intellectuelle et Autisme, Sorbonne University, Paris 75006, France., Pendziwiat M; Department of Neuropediatrics, University Medical Center, Christian-Albrechts-University of Kiel, 24105 Kiel, Germany., Person R; GeneDx, Gaithersburg, MD 20877, USA., Ramelli GP; Neuropediatric Unit, Pediatric Department of Southern Switzerland, San Giovanni Hospital, 6500 Bellinzona, Switzerland., Ramos LLP; Mendelics Genomic Analysis, Sao Paulo 04013, Brazil., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland; Rare Disease Initiative Zürich, Clinical Research Priority Program for Rare Diseases, University of Zurich, CH-8006 Zurich, Switzerland., Reavey C; GeneDx, Gaithersburg, MD 20877, USA., Renieri A; Medical Genetics, University of Siena, 53100 Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, 53100 Siena, Italy., Rieß A; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen 72076, Germany., Sanchez-Valle A; Department of Pediatrics, Division of Genetics and Metabolism, University of South Florida, Tampa, FL 33606, USA., Sattar S; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA., Saunders C; Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA; School of Medicine, University of Missouri, Kansas City, MO 64108, USA., Schwarz N; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany., Smol T; EA7364 Rares du Developpement Embryonnaire et du Metabolisme, Institut de Genetique Medicale, Centre Hospitalier Universitaire de Lille, University of Lille, F-59000 Lille, France., Srour M; Department of Pediatrics, Department of Neurology and Neurosurgery, McGill University, Montreal, QC H4A 3J1, Quebec, Canada., Steindl K; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich CH-8952, Switzerland; Neuroscience Center Zurich, University of Zurich and Eidgenössische Technische Hochschule, Zurich 8057, Switzerland., Syrbe S; Division of Child Neurology and Inherited Metabolic Diseases, Department of General Paediatrics, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, 69120 Heidelberg, Germany., Taylor JC; Oxford National Institute for Health Research Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Telegrafi A; GeneDx, Gaithersburg, MD 20877, USA., Thiffault I; School of Medicine, University of Missouri, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA., Trauner DA; Section of Pediatric Neurology, Rady Children's Hospital, San Diego, CA 92123, USA; Department of Neurosciences, University of California San Diego, La Jolla, CA 92093, USA; Department of Pediatrics, University of California San Diego, La Jolla, CA 92093, USA., van der Linden H Jr; Pediatric Neurology and Neurophysiology, Instituto de Neurologia de Goiania, Goiania 74210, Brazil., van Koningsbruggen S; Department of Clinical Genetics, Amsterdam University Medical Center, University of Amsterdam, 1105 AZ Amsterdam, the Netherlands., Villard L; Department of Medical Genetics, Assistance Publique - Hôpitaux de Marseille, Hôpital d'Enfants de La Timone, 13005 Marseille, France; Marseille Medical Genetics Center, Aix Marseille Univ, Inserm, U1251, Marseille, France., Vogel I; Department of Clinical Genetics, Aarhus University Hospital, 8200 Aarhus, Denmark; Center for Fetal Diagnostics, Aarhus University Hospital, 8200 Aarhus, Denmark., Vogt J; West Midlands Regional Clinical Genetics Service, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK; Birmingham Health Partners, Birmingham Women's and Children's Hospital, National Health Service Foundation Trust, Birmingham B15 2TG, UK., Weber YG; Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, 72076 Tübingen, Germany; Department for Neurosurgery, University of Tübingen, 72076 Tübingen, Germany., Wentzensen IM; GeneDx, Gaithersburg, MD 20877, USA., Widjaja E; Department of Diagnostic Imaging, Hospital for Sick Children, University of Toronto, Toronto, M5G 1X8, ON, Canada., Zak J; Ludwig Institute for Cancer Research, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, UK; Department of Immunology and Microbiology, The Scripps Research Institute, La Jolla, CA 92037, USA., Baxter S; Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA 02142, USA., Banka S; Division of Evolution & Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester M13 9PL, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University National Health Service Foundation Trust, Health Innovation Manchester, Manchester M13 9WL, UK., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA. Electronic address: Lance.Rodan@childrens.harvard.edu.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Jun 06; Vol. 104 (6), pp. 1210-1222. Date of Electronic Publication: 2019 May 09.