Zobrazeno 1 - 10
of 49
pro vyhledávání: '"Aarts-Tesselaar C"'
Autor:
Velmans C; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany., O'Donnell-Luria AH; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA., Argilli E; Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA., Tran Mau-Them F; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Vitobello A; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Chan MC; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong., Fung JL; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong., Rech M; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Abicht A; Medical Genetics Center (MGZ), Munich, Germany., Aubert Mucca M; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France., Carmichael J; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA., Chassaing N; Department of Medical Genetics, University Hospital Centre Toulouse, Toulouse, Midi-Pyrénées, France., Clark R; Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA., Coubes C; Department of Medical Genetics, University Hospital Center Montpellier, Montpellier, Languedoc-Roussillon, France., Denommé-Pichon AS; UFR Des Sciences de Santé, INSERM UMR1231 GAD Génétique des Anomalies du Développement, FHU-TRANSLAD, Université de Bourgogne, Dijon, Bourgogne, France.; Unité Fonctionnelle d'Innovation diagnostique des maladies rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., de Dios JK; Department of Medical Genetics, Dayton Children's Hospital, Dayton, Ohio, USA., England E; Center for Mendelian Genomics and Medical and Population Genetics Program, Broad Institute, Cambridge, Massachusetts, USA., Funalot B; Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France., Gerard M; Service de Génétique, Centre Hospitalier Universitaire de Caen, Caen, Basse-Normandie, France., Joseph M; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA., Kennedy C; Department of Medical Genetics and Metabolism, Valley Children's Hospital, Madera, California, USA., Kumps C; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland., Willems M; Medical Genetic Department for Rare Diseases and Personalized Medicine, Reference Center AD SOOR, AnDDI-RARE, Groupe DI, Inserm U1298, Montpellier University, Centre Hospitalier Universitaire de Montpellier, Montpellier, France., van de Laar IMBH; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Aarts-Tesselaar C; Department of Pediatrics, Amphia Hospital, Breda, North Brabant, Netherlands., van Slegtenhorst M; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Lehalle D; Department of Clinical Genetics, Hopital Henri Mondor, Creteil, Île-de-France, France., Leppig K; Genetic Services, Kaiser Permanente Washington, Seattle, Washington, USA., Lessmeier L; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany., Pais LS; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, USA., Paterson H; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Ramanathan S; Pediatrics Specialty Clinics, Loma Linda University Medical Center, Loma Linda, California, USA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA., Superti-Furga A; Division of Genetic Medicine, Lausanne University Hospital, Lausanne, VD, Switzerland., Chung BHY; Department of Paediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, Hong Kong., Sherr E; Brain Development Research Program, Department of Neurology, University of California San Francisco Division of Hospital Medicine, San Francisco, California, USA., Netzer C; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany., Schaaf CP; Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.; Institute of Human Genetics, Heidelberg University, Heidelberg, Baden-Württemberg, Germany.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, USA., Erger F; Institute of Human Genetics, University Hospital Cologne, Cologne, Nordrhein-Westfalen, Germany florian.erger@uk-koeln.de.
Publikováno v:
Journal of medical genetics [J Med Genet] 2022 Jul; Vol. 59 (7), pp. 697-705. Date of Electronic Publication: 2021 Jul 28.
Autor:
Dohrn MF; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Rebelo AP; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Srivastava S; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Cappuccio G; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Smigiel R; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Malhotra A; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Basel D; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., van de Laar I; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Neuteboom RF; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Aarts-Tesselaar C; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Mahida S; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Brunetti-Pierri N; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Taft RJ; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands., Züchner S; From the Dr. John T. Macdonald Foundation (M.F.D., A.P.R., S.Z.), Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, FL; Department of Neurology (M.F.D.), Medical Faculty, RWTH Aachen University Hospital, Aachen, Germany; Department of Neurology (S.S., S.M.), Boston Children's Hospital, Harvard Medical School, MA; Department of Translational Medicine (G.C., N.B.-P.), Federico II University; Telethon Institute of Genetics and Medicine (G.C., N.B.-P.), Pozzuoli, Naples, Italy; Department of Pediatrics and Rare Disorders (R.S.), Wroclaw Medical University, Poland; Illumina Inc (A.M., R.T.), San Diego, CA; Division of Pediatric Genetics (D.B.), Department of Genetics, Medical College of Wisconsin, Milwaukee; Department of Clinical Genetics (I.L.), Erasmus MC, University Medical Center Rotterdam; Department of Neurology (R.F.N.), Eramus MC, Medical Center Rotterdam; and Amphia Hospital (C.A.-T.), Breda, the Netherlands. szuchner@med.miami.edu.
Publikováno v:
Neurology [Neurology] 2022 Mar 15; Vol. 98 (11), pp. 440-445. Date of Electronic Publication: 2022 Feb 02.
Autor:
Cameron-Christie SR, Wells CF, Simon M, Wessels M, Tang CZN, Wei W, Takei R, Aarts-Tesselaar C, Sandaradura S, Sillence DO, Cordier MP, Veenstra-Knol HE, Cassina M, Ludwig K, Trevisson E, Bahlo M, Markie DM, Jenkins ZA, Robertson SP
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2019 Sep 05; Vol. 105 (3), pp. 669.
Autor:
Cameron-Christie SR; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Wells CF; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand; Paris Diderot University, Sorbonne Paris Cité, Faculty of Medicine, Paris 75007, France; Département de Génétique Médicale, Maladies Rares et Médecine Personnalisée, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Centre Hospitalier Universitaire de Montpellier, Université de Montpellier 34295, Montpellier Cedex 5, France., Simon M; Department of Genetics, University Medical Center Utrecht, 3508 GA Utrecht, the Netherlands; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CE, the Netherlands., Wessels M; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam 3015 CE, the Netherlands., Tang CZN; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Wei W; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Takei R; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Aarts-Tesselaar C; Amphia Hospital, 4819 EV Breda, the Netherlands., Sandaradura S; Department of Clinical Genetics Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Child and Adolescent Health, University of Sydney, Sydney, NSW 2006, Australia., Sillence DO; Department of Clinical Genetics Children's Hospital at Westmead, Sydney, NSW 2145, Australia; Discipline of Genetic Medicine, University of Sydney, Sydney, NSW 2006, Australia., Cordier MP; Clinical Genetics, Hôpital Femme Mère Enfant, Hôpitaux de Lyon, Lyon 69677, France., Veenstra-Knol HE; Department of Medical Genetics, University of Groningen, University Medical Center Groningen, 9700 RB Groningen, the Netherlands., Cassina M; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova 35128, Italy., Ludwig K; Cardiovascular Pathology Unit, University Hospital of Padova, Padova 35128, Italy., Trevisson E; Clinical Genetics Unit, Department of Women's and Children's Health, University of Padova, Padova 35128, Italy., Bahlo M; Population Health and Immunity Division, Walter and Eliza Hall Institute of Medical Research, University of Melbourne, Melbourne, VIC 3052, Australia; Department of Medical Biology, University of Melbourne, Melbourne, VIC 3052, Australia., Markie DM; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Jenkins ZA; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin 9054, New Zealand. Electronic address: stephen.robertson@otago.ac.nz.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2018 Jun 07; Vol. 102 (6), pp. 1115-1125. Date of Electronic Publication: 2018 May 24.
Autor:
He, Qing‐bing1 (AUTHOR), Wu, Cai‐hong2 (AUTHOR), Sun, Dong‐lan3,4 (AUTHOR), Yuan, Jia‐yu1 (AUTHOR), Hu, Hua‐ying5 (AUTHOR), Yang, Kai6,7 (AUTHOR), Chen, Wen‐qi3,4 (AUTHOR), Yan, You‐sheng6,7 (AUTHOR), Yin, Guang‐yue2 (AUTHOR), Zhang, Jing3,4 (AUTHOR) zhangjing_hbyd_81@126.com, Li, Ya‐zhou1 (AUTHOR) lyz_hbsy@126.com
Publikováno v:
Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-11. 11p.
Publikováno v:
Neural Regeneration Research; Dec2024, Vol. 19 Issue 12, p2684-2697, 14p
Autor:
Ranieri, Maurizio, Riccardi, Mariagrazia, Raele, Maria Vittoria, Farì, Giacomo, Megna, Marisa, Marvulli, Riccardo
Publikováno v:
Journal of Personalized Medicine; Nov2024, Vol. 14 Issue 11, p1073, 8p
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Autor:
van Zwol AL; Erasmus Medical Centre, Sophia Children's Hospital, Neonatology, Dr Molewaterplein 60, 3015 GJ Rotterdam, Rotterdam, 3015GJ, Netherlands., Lequin M, Aarts-Tesselaar C, van der Eijk AA, Driessen GA, de Hoog M, Govaert P
Publikováno v:
BMJ case reports [BMJ Case Rep] 2009; Vol. 2009. Date of Electronic Publication: 2009 Dec 14.
Autor:
Ramachandran, Prashanth S., Okaty, Benjamin W., Riehs, Molly, Wapniarski, Anne, Hershey, Daniel, Harb, Hani, Zia, Maham, Haas, Elisabeth A., Alexandrescu, Sanda, Sleeper, Lynn A., Vargas, Sara O., Gorman, Mark P., Campman, Steven, Mena, Othon J., Levert, Keith, Hyland, Keith, Goldstein, Richard D., Wilson, Michael R., Haynes, Robin L.
Publikováno v:
JAMA Neurology; Mar2024, Vol. 81 Issue 3, p240-247, 8p