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Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.

Journal: American Journal of Human Genetics

Published: 2020-03-26

DOI: 10.1016/j.ajhg.2020.03.001

Affiliations: 25

Authors: 38

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Institutions Share
CHU Sainte-Justine Research Center, Canada 0.12
Johns Hopkins University School of Medicine (JHUSOM), JHU, United States of America (USA) 0.08
IRCCS Bambino Gesù Children's Hospital, Italy 0.08
UCL Department of Neuromuscular Diseases, United Kingdom (UK) 0.08
Great Ormond Street Hospital for Children NHS Trust, United Kingdom (UK) 0.08
Children Hospital and Institute of Child Health, Multan, Pakistan 0.05
Dijon University Hospital, France 0.05
GeneDx Inc., United States of America (USA) 0.05
Research Institute for Microbial Diseases (RIMD), Osaka University, Japan 0.05
Department of Neurology, BCH, United States of America (USA) 0.04
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital-San Diego, United States of America (USA) 0.04
Gleeson Laboratory for Pediatric Brain Diseases, United States of America (USA) 0.04
McKusick-Nathans Institute of Genetic Medicine, JHU, United States of America (USA) 0.03
Montreal Children's Hospital, Canada 0.03
Centre Déficiences Intellectuelles de Causes Rares (CRDI-Paris), Service de Génétique Médicale, Hôpital Necker-Enfants Malades, France 0.03
Human Genetics and Genome Research Division, NRC, Egypt 0.03
Lipids, Nutrition, Cancer (LNC), France 0.03
Fondazione Policlinico Universitario Agostino Gemelli, Italy 0.03
Division of Medical Genetics at CCMC, Northwell Health, United States of America (USA) 0.03
Baylor College of Medicine (BCM), United States of America (USA) 0.03
Division of Genetics and Genomics, BCH, United States of America (USA) 0.01
Department of Pediatrics, CHU Sainte-Justine, Canada 0.01