第一单位：
Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.;Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
作者：
Suzanna G M,Frints [1]
;
Friederike,Hennig [2]
;
Roberto,Colombo [3]
;
Sebastien,Jacquemont [4]
;
Paulien,Terhal [5]
;
Holly H,Zimmerman [6]
;
David,Hunt [7]
;
Bryce A,Mendelsohn [8]
;
Ulrike,Kordaß [9]
;
Richard,Webster [10]
;
Margje,Sinnema [1]
;
Omar,Abdul-Rahman [11]
;
Vanessa,Suckow [2]
;
Alberto,Fernández-Jaén [12]
;
Kees,van Roozendaal [13]
;
Servi J C,Stevens [1]
;
Merryn V E,Macville [1]
;
Salwan,Al-Nasiry [14]
;
Koen,van Gassen [5]
;
Norbert,Utzig [15]
;
Suzanne M,Koudijs [16]
;
Lesley,McGregor [17]
;
Saskia M,Maas [18]
;
Diana,Baralle [19]
;
Abhijit,Dixit [20]
;
Peter,Wieacker [21]
;
Marcus,Lee [22]
;
Arthur S,Lee [23]
;
Elizabeth C,Engle [24]
;
Gunnar,Houge [25]
;
Gyri A,Gradek [25]
;
Andrew G L,Douglas [26]
;
Cheryl,Longman [27]
;
Shelagh,Joss [27]
;
Danita,Velasco [28]
;
Raoul C,Hennekam [29]
;
Hiromi,Hirata [30]
;
Vera M,Kalscheuer [2]
作者单位：
Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.;Department of Genetics and Cell Biology, Faculty of Health Medicine Life Sciences, Maastricht University Medical Center+, Maastricht University, Maastricht, The Netherlands.
[1]
Research Group Development and Disease, Max Planck Institute for Molecular Genetics, Berlin, Germany.
[2]
Catholic University of the Sacred Heart, Rome, Italy.;Center for the Study of Rare Inherited Diseases (CeSMER), Niguarda Ca' Granda Metropolitan Hospital, Milan, Italy.
[3]
Service de Génétique Médicale, CHUV, Lausanne, Switzerland.
[4]
Laboratories, Pharmacy and Biomedical Genetics Division, University Medical Centre Utrecht, Utrecht, The Netherlands.
[5]
Department of Pediatrics, Division of Medical Genetics, University of Mississippi Medical Center, Jackson, Mississippi.
[6]
Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.
[7]
Division of Genetics, Department of Pediatrics, University of California, San Francisco, California.
[8]
MVZ für Humangenetik und Molekularpathologie GmbH, Greifswald, Germany.
[9]
The Department of Neurology and Neurosurgery, The Children's Hospital at Westmead, Westmead, NSW, Australia.
[10]
Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.
[11]
Hospital Universitario Quirónsalud, Universidad Europea de Madrid, Madrid, Spain.
[12]
Department of Clinical Genetics, Maastricht University Medical Center+, azM, Maastricht, The Netherlands.
[13]
Department of Obstetrics and Gynecology, Prenatal Diagnostics & Therapy, Maastricht University Medical Center+, Maastricht, The Netherlands.
[14]
Klinik für Kinder- und Jugendmedizin, Universitätsmedizin Greifswald, Greifswald, Germany.
[15]
Department of Neurology, Maastricht University Medical Center+, Maastricht, The Netherlands.
[16]
SA Clinical Genetics Service, Women's and Children's Hospital, North Adelaide, SA, Australia.
[17]
Department of Clinical Genetics, Amsterdam UMC, Amsterdam, The Netherlands.
[18]
Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.;Faculty of Medicine, University of Southampton, Southampton, UK.
[19]
City Hospital Campus, Nottingham University Hospitals NHS Trust, Nottingham, UK.
[20]
Institute of Human Genetics, Westfälische Wilhelms Universität Münster, Münster, Germany.
[21]
Department of Pediatrics, Division of Pediatric Neurology, University of Mississippi Medical Center, Jackson, Mississippi.
[22]
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.;Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
[23]
Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.;Broad Institute of MIT and Harvard, Cambridge, Massachusetts.;Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts.;Howard Hughes Medical Institute, Chevy Chase, Maryland.
[24]
Department of Medical Genetics, Haukeland University Hospital, Bergen, Norway.
[25]
Wessex Clinical Genetics Service, University Hospital Southampton NHS Foundation Trust, Southampton, UK.;Human Development and Health, Faculty of Medicine, University of Southampton, UK.
[26]
West of Scotland Regional Genetic Centre, Queen Elizabeth University Hospital, Glasgow, Scotland, UK.
[27]
Department of Pediatrics, Munroe-Meyer Institute for Genetics & Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska.
[28]
Department of Pediatrics, Amsterdam UMC, Amsterdam, The Netherlands.
[29]
Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan.
[30]
DOI
10.1002/humu.23841
PMID
31206972
发布时间
2025-05-30
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