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Akademický článek
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Autor:
Sá, Maria J Nabais, Olson, Alexandra N, Yoon, Grace, Nimmo, Graeme A M, Gomez, Christopher M, Willemsen, Michèl A, Millan, Francisca, Schneider, Alexandra, Pfundt, Rolph, Brouwer, Arjan P M de, Dinman, Jonathan D, Vries, Bert B A de
Publikováno v:
Human Molecular Genetics; Dec2020, Vol. 29 Issue 24, p3892-3899, 8p
Autor:
Vries, Bert B A de, Robinson, Hazel, Stolte-Dijkstra, Irene, Gi, Cecil V Tjon Pian, Dijkstra, Piet F, Doorn, Jaap van, Halley, Dicky J J, Oostra, Ben A, Turner, Gillian, Niermeijer, Martinus F
Publikováno v:
Journal of Medical Genetics; Oct1995, Vol. 32 Issue 10, p764-769, 6p, 3 Black and White Photographs, 1 Diagram, 1 Chart, 1 Graph
Autor:
Galjaard, Robert-Jan H., Linde, Herma C. van der, Eussen, Bert H. J., Vries, Bert B. A. de, Wouters, Cokkie H., Oostra, Ben A., Graaff, Esther de, Heutink, Peter
Publikováno v:
American Journal of Medical Genetics. Part A; 30 August 2003, Vol. 121 Issue: 2 p168-173, 6p
Autor:
de Ligt, Joep, Willemsen, Marjolein H., Bon, Bregje W. M. van, Kleefstra, Tjitske, Yntema, Helger G., Kroes, Thessa, Silfhout, Anneke T. Vulto-van, Koolen, David A., de Vries, Petra, Gilissen, Christian, del Rosario, Marisol, Hoischen, Alexander, Scheffer, Hans, Vries, Bert B. A. de, Brunner, Han G., Veltman, Joris A., Vissers, Lisenka E. L. M.
Publikováno v:
Obstetrical and Gynecological Survey; March 2013, Vol. 68 Issue: 3 p191-193, 3p
Autor:
Lilia Maria de Azevedo Moreira, Joris A. Veltman, Anne Destree, Ercan Mihci, Banu Güzel Nur, Charles Marques Lourenço, Eva Rossier, Simon E. Fisher, Julie S. Cohen, Julie Hoover-Fong, Viviane Borges Ferreira, Mariana Aracena, Aida Telegrafi, Kátia Maria da Rocha, Alexander Hoischen, Julie McGaughran, Hülya Kayserili, Anthony Vandersteen, Lindsday A. Lambie, Bert B.A. de Vries, Sarah A. Graham, Heiko Reutter, Alessandra Baumer, Pelagia Deriziotis, Andreas Dufke, Maria Luisa Giovannucci Uzielli, Robert Smigiel, Theresa A. Grebe, Albert Schinzel, Christian Gilissen, Bregje W.M. van Bon, Careni Spencer, Marloes Steehouwer, Martin Smitka, Alice S. Brooks, Umut Altunoglu, Elisabetta Lapi, Charu Deshpande, Aleksandra Jezela-Stanek, Dafne Dain Gandelman Horovitz, Nataliya Di Donato, Ali Fatemi, Gwenaelle Andre, Lude Franke, Rocio Acuna-Hidalgo, Sipko van Dam
Publikováno v:
PLoS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics
PLoS Genetics (online), 13(3):e1006683. Public Library of Science
PLoS genetics, 13(3). PUBLIC LIBRARY SCIENCE
Plos Genetics, 13, e1006683-e1006683
Plos Genetics, 13, 3, pp. e1006683-e1006683
PLoS Genetics, Vol 13, Iss 3, p e1006683 (2017)
PLOS Genetics
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in ex
Autor:
Rots D; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Genetics Laboratory, Children's Clinical University Hospital, Riga, Latvia., Choufani S; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada., Faundes V; Laboratorio de Genética y Enfermedades Metabólicas, Instituto de Nutrición y Tecnología de Los Alimentos (INTA), Universidad de Chile, Santiago, Chile; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Dingemans AJM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Joss S; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Foulds N; Wessex Clinical Genetics Services, University Hospital Southampton NHS Foundation Trust, Southampton SO16 5YA, UK., Jones EA; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK., Stewart S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Vasudevan P; Department of Clinical Genetics, University Hospitals of Leicester, Leicester Royal Infirmary, Leicester LE1 7RH, UK., Dabir T; Northern Ireland Regional Genetics Centre, Belfast City Hospital, Belfast, UK., Park SM; Department of Clinical Genetics, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK., Jewell R; Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds Teaching Hospitals NHS Trust, Leeds, UK., Brown N; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, Royal Children's Hospital, The University of Melbourne, Melbourne, VIC, Australia., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Jacquemont S; Department of Pediatrics, University of Montreal, Montreal, QC, Canada., Jizi K; Service de Génétique Médicale, CHU Ste-Justine, Montréal, QC, Canada., Ravenswaaij-Arts CMAV; University of Groningen, University Medical Centre Groningen, Department Genetics, Groningen, the Netherlands., Kroes HY; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Ockeloen CW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Diets IJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Nizon M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Vincent M; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Cogné B; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Besnard T; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nantes, Nantes, France., Kambouris M; Division of Genetics, Department of Pathology and Laboratory Medicine Department, Sidra Medicine, Doha, Qatar., Anderson E; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., McDougall C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., Donoghue S; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA., O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Leary M; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Byers H; Department of Pediatrics, Stanford University, Stanford, CA, USA., Leslie N; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA., Mazzola S; Center for Personalized Genetic Healthcare, Cleveland Clinic, Cleveland, OH, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Vera M; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Shen JJ; Division of Genetics, Department of Pediatrics, UCSF Fresno, Fresno, CA, USA; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, CA, USA., Boles R; NeuraBilities Healthcare, Philadelphia, PA, USA., Jain V; All Wales Medical Genomics Service, Wales Genomic Health Centre, Cardiff Edge Business Park, Longwood Drive, Whitchurch, Cardiff CF14 7YU, UK., Brischoux-Boucher E; Centre de Génétique Humaine, CHU de Besançon, Université de Franche-Comté, Besançon, France., Kinning E; Clinical Genetics, Birmingham Women's and Children's, Birmingham, UK., Simpson BN; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati, Cincinnati, OH, USA., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Harris J; Kennedy Krieger Institute, Baltimore, MD, USA; Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Guimier A; Service de Médecine Genomique des Maladies Rares, CRMR Anomalies Du Développement, Hôpital Necker-Enfants Malades, Assistance Publique des Hôpitaux de Paris, Paris, France., Marijon P; Laboratoire de Biologie Médicale Multisites Seqoia FMG2025, 75014 Paris, France., Vries BBA; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Motter CS; Genetic Center, Akron Children's Hospital, Akron, OH, USA., Mendelsohn BA; Department of Medical Genetics, Kaiser Permanente, Oakland, CA, USA., Coffino S; Department of Pediatric Neurology, Kaiser Permanente, Oakland, CA, USA., Gerkes EH; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Afenjar A; APHP Sorbonne Université, Centre de Référence Malformations et Maladies Congénitales Du Cervelet et Déficiences Intellectuelles de Causes Rares, Département de Génétique et Embryologie Médicale, Hôpital Trousseau, Paris, France., Visconti P; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy., Bacchelli E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Maestrini E; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Delahaye-Duriez A; Medical Genomics and Clinical Genetics Unit, AP-HP, Hôpital Jean Verdier, Bondy, France., Gooch C; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, MO, USA., Hendriks Y; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Adams H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands., Thauvin-Robinet C; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Dijon, France; Inserm, UMR1231, Equipe GAD, Bâtiment B3, Université de Bourgogne Franche Comté, Dijon Cedex, France; Centre de Référence Déficiences Intellectuelles de Causes Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Josephi-Taylor S; Department of Clinical Genetics, The Children's Hospital at Westmead, Sydney, NSW, Australia; Discipline of Genomic Medicine, Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia., Bertoli M; Northern Genetics Service, Newcastle Upon Tyne NHS Foundation Trust, Newcastle Upon Tyne, UK., Parker MJ; Department of Clinical Genetics, Sheffield Children's Hospital, Sheffield, UK., Rutten JW; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Caluseriu O; Department of Medical Genetics, University of Alberta, Edmonton, Canada., Vernon HJ; Johns Hopkins University School of Medicine, Baltimore, MD, USA., Kaziyev J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhu J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kremen J; Division of Endocrinology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Frazier Z; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Osika H; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Breault D; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Nair S; Department of Fetal Medicine, Lifeline Super Specialty Hospital, Kerala, India., Lewis SME; Department of Medical Genetics, BC Children's Hospital Research Institute, The University of British Columbia, Vancouver, BC, Canada., Ceroni F; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy; Faculty of Health and Life Sciences, Oxford Brookes University, Oxford, UK., Viggiano M; Pharmacy and Biotechnology Department, University of Bologna, Bologna, Italy., Posar A; IRCCS Istituto Delle Scienze Neurologiche di Bologna, UOSI Disturbi Dello Spettro Autistico, Bologna, Italy; Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy., Brittain H; Department of Clinical Genetics, Birmingham Women's & Children's NHS Trust, Birmingham, UK., Giovanna T; Medical Genetics Unit, Meyer Children's Hospital IRCCS Florence, Florence, Italy., Giulia G; Medical Genetics Unit,Meyer Children's Hospital IRCCS, Florence, Italy., Quteineh L; Division of Genetic Medicine, Geneva University Hospitals, 1205 Geneva, Switzerland., Ha-Vinh Leuchter R; Division of Development and Growth, Department of Pediatrics, University of Geneva, Geneva, Switzerland., Zonneveld-Huijssoon E; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands., Mellado C; Sección de Genética y Errores Congénitos Del Metabolismo, División de Pediatría, Pontificia Universidad Católica de Chile, Santiago, Chile., Marey I; CHU Grenoble Alpes, Grenoble, France., Coudert A; CHU Grenoble Alpes, Grenoble, France., Aracena Alvarez MI; Unit of Genetics and Metabolic Diseases, Division of Pediatrics, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile., Kennis MGP; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Bouman A; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Roifman M; The Prenatal Diagnosis and Medical Genetics Program, Division of Maternal Fetal Medicine, Department of Obstetrics and Gynaecology, University of Toronto, Toronto, Canada., Amorós Rodríguez MI; Deparment of Pediatrics, Hospital Punta Europa Algeciras, Cadiz, Spain., Ortigoza-Escobar JD; Movement Disorders Unit, Institut de Recerca Sant Joan de Déu, CIBERER-ISCIII and European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain., Vernimmen V; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands; GROW-School for Oncology and Reproduction, Maastricht, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Brunner HG; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands; Department of Clinical Genetics, Erasmus MC, Rotterdam, the Netherlands; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands. Electronic address: t.kleefstra@erasmusmc.nl., Weksberg R; Genetics and Genome Biology Program, Research Institute, the Hospital for Sick Children, Toronto, ON M5G 1X8, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, the Hospital for Sick Children, University of Toronto, Toronto, ON M5G 1X8, Canada. Electronic address: rweksb@sickkids.ca., Banka S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Aug 08; Vol. 111 (8), pp. 1626-1642. Date of Electronic Publication: 2024 Jul 15.
Autor:
Harris HK; Division of Developmental Medicine, Department of Medicine, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Baylor College of Medicine and Meyer Center for Developmental Pediatrics, Texas Children's Hospital, Houston, TX, USA., Nakayama T; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Lai J; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Program in Neuroscience, Harvard University, Boston, MA, USA., Zhao B; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Argyrou N; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Gubbels CS; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Soucy A; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Suslovitch V; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Rodan LH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Tiller GE; Department of Genetics, Kaiser Permanente, Los Angeles, CA, USA., Lesca G; Department of Medical Genetics, Lyon University Hospital, Bron, France., Gripp KW; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Asadollahi R; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Hamosh A; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Applegate CD; Department of Genetic Medicine, Johns Hopkins University, Baltimore, MD, USA., Turnpenny PD; Peninsula Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Simon MEH; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Volker-Touw CML; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Gassen KLIV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Binsbergen EV; Department of Genetics, University Medical Centre Utrecht, Utrecht, The Netherlands., Pfundt R; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Gardeitchik T; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Vries BBA; Department of Human Genetics, Radboud University Medical Centre, Nijmegen, The Netherlands., Immken LL; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Buchanan C; Dell Children's Medical Group, Department of Clinical and Metabolic Genetics, Austin, TX, USA., Willing M; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Toler TL; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Fassi E; Division of Genetics and Genomic Medicine, Washington University School of Medicine in St. Louis, St. Louis, MO, USA., Baker L; Division of Medical Genetics, Nemours/A.I. DuPont Hospital for Children, Wilmington, DE, USA., Vansenne F; Department of Genetics, University Medical Center Groningen, Groningen, The Netherlands., Wang X; Ciphergene, Beijing, China., Ambrus JL Jr; Division of Allergy, Immunology, and Rheumatology, SUNY at Buffalo School of Medicine, Buffalo, NY, USA., Fannemel M; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Agolini E; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Bambino Gesu Children's Hospital, Rome, Italy., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Boonsawat P; Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland., Fagerberg CR; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Larsen MJ; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Kibaek M; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark., Labalme A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Poisson A; Department of Medical Genetics, Lyon University Hospital, Bron, France., Payne KK; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA., Walsh LE; Department of Neurology, Indiana University Health Neuroscience Center, Indianapolis, IN, USA.; Department of Medical and Molecular Genetics, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA., Aldinger KA; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA, USA., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Gray C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Bupp CP; Spectrum Health Helen DeVos Children's Hospital, Grand Rapids, MI, USA., Pascolini G; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Grammatico P; Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo-Forlanini Hospital, Roma, Italy., Broly M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Küry S; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Nizon M; CHU Nantes, Service de Génétique Médicale, Nantes, France; L'institut du thorax, INSERM, CNRS, UNIV Nantes, CHU Nantes, Nantes, France., Rasool IG; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan.; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Zahoor MY; Institute of Biochemistry & Biotechnology, University of Veterinary & Animal Sciences, Lahore, Pakistan., Kraus C; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Reis A; Institute of Human Genetics, University of Erlangen-Nuremberg, Erlangen, Germany., Iqbal M; Department of Biochemistry and Biotechnology, The Islamia University of Bahawalpur, Punjab, Pakistan., Uguen K; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Audebert-Bellanger S; Department of Medical Genetics, Brest University Hospital, Brest, France., Ferec C; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Redon S; Department of Medical Genetics, Brest University Hospital, Brest, France.; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France., Baker J; Department of Genomic Medicine, Children's Minnesota, Minneapolis, MN, USA., Wu Y; Shanxi Children's Hospital, Taiyuan, China., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Universita Cattolica del Sacro Cuore, Rome, Italy., Syrbe S; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Brosse I; Division of Pediatric Epileptology, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Dobyns WB; Departments of Pediatrics and Genetics, University of Minnesota, Minneapolis, MN, USA., Cohen LL; Division of Medical Genetics, Weill Cornell Medical College, New York, NY, USA., Blomhoff A; Department of Medical Genetics, Oslo University Hospital, Oslo, Norway., Mignot C; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France.; Centre de Référence Déficiences Intellectuelles de Causes Rares, Paris, France., Keren B; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Courtin T; APHP.Sorbonne Université, Département de Génétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France., Agrawal PB; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Beggs AH; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Yu TW; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. timothy.yu@childrens.harvard.edu.; Program in Neuroscience, Harvard University, Boston, MA, USA. timothy.yu@childrens.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Jun; Vol. 23 (6), pp. 1028-1040. Date of Electronic Publication: 2021 Mar 03.