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The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

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作者单位: Service de Génétique, H?pital Necker‐Enfants Malades,Assistance Publique‐H?pitaux de Paris (APHP) [1] Divison of Human Genetics, Department of Pediatrics,Children's Hospital of Philadelphia [2] Department of Review Analysis,GeneDx LLC [3] Department of Clinical Genetics,Rigshospitalet, Copenhagen University Hospital [4] Institute for Genomic Medicine,Columbia University Medical Center [5] Rare Disease Institute, Children's National Hospital [6] INSERM UMR1231 Equipe GAD, Université de Bourgogne [7] Laboratoire de biologie médicale multisites Seqoia—FMG2025 [8] Department of Genetics and Genomic Sciences,Icahn School of Medicine at Mount Sinai [9] Department of Neuropediatrics,Childrens Hospital of Eastern Switzerland St. Gallen [10] Department of Epilepsy Genetics and Personalized Treatment,The Danish Epilepsy Centre [11] Institute of Human Genetics,University of Leipzig Medical Center [12] Department of Pediatrics,Columbia University Irving Medical Center [13] Regional Department of Genetics,Southern California Kaiser Permanente Medical Group [14] Department of Pediatrics,University Hospital Hvidovre [15] Section of Genetics, Department of Pediatrics,University of Colorado School of Medicine [16] Medical Genetics Unit,Hospital Pediátrico, Centro Hospitalar e Universitário de Coimbra [17] Department of Molecular & Human Genetics,Baylor College of Medicine [18] Institute of Medical and Molecular Genetics (INGEMM),La Paz University Hospital [19] Nemours Children's Hospital [20] Division of Genetics,Joe DiMaggio Children's Hospital [21] Centre de Référence Anomalies du Développement et Syndromes Malformatifs,FHU TRANSLAD, H?pital d [22] Mitochondrial Medicine & Neurogenetics, Cleveland Clinic [23] Internal Medicine & Pediatrics,University of Iowa Carver College of Medicine [24] Clinical Genomics Program [25] Service de pédiatrie et de génétique clinique, CHU Rennes [26] Molecular Modelling Group,Severo Ochoa Molecular Biology Centre (CBMSO, CSIC‐UAM) [27] Department of Clinical Genetics,Kennedy Center, Copenhagen University Hospital, Rigshospitalet [28] Department of Neurology and Developmental Medicine,Kennedy Krieger Institute [29] Victorian Clinical Genetics Services,Murdoch Children's Research Institute [30] Stead Family Department of Pediatrics,University of Iowa [31] Division of Clinical Genetics,Columbia University Irving Medical Center [32] CHU Rennes, H?pital Sud, Service de Génétique Clinique, Univ Rennes, CNRS IGDR UMR 6290, Centre de [33] Deptartment of Pediatrics,Genetic Medicine, UCSF/Fresno [34]
发布时间 2022-04-21
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