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Natural history of KBG syndrome in a large European cohort

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第一作者: Lorenzo,Loberti
作者单位: Department of Biology and Medical Genetics, Charles University – 2nd Faculty of Medicine and [1] Department of Clinical Genetics [2] IRCCS Stella Maris Foundation, Molecular Medicine for Neurodegenerative and Neuromuscular Disease [3] Department of Clinical Genetics and Genomics, The Cyprus Institute of Neurology & Genetics [4] Institut de Pathologie et de Génétique; Centre de Génétique Humaine [5] Department of Molecular and Medical Genetics, Tbilisi State Medical University [6] Department of Genomics and Clinical Genetics, Turku University Hospital [7] Medical Genetics, University of Siena [8] National Center of Genetics (NCG), Laboratoire national de santé (LNS) [9] Amsterdam UMC location University of Amsterdam, Department of Pediatrics [10] Department of Translational Medicine, University of Naples "Federico II" [11] Area of Clinical and Molecular Genetics, Vall d’Hebron University Hospital [12] Division of Genetic Medicine, Lausanne University Hospital (CHUV) and University of Lausanne [13] Division of Child and Adolescent Neuropsychiatry, University of Siena [14] Clinical Paediatrics [15] IRCCS Stella Maris Foundation, Department of Developmental Neuroscience [16] Genetica Medica, Azienda Ospedaliera Universitaria Senese [17] Department of Child Neurology, Turku University Hospital [18] Centre for Neurological Diseases, West-Tallinn Central Hospital [19] Regional Coordinating Center for Rare Diseases [20] Institute for Maternal and Child Health [21] Genetic Counseling Service, Department of Pediatrics, Regional Hospital of Bolzano [22] William Lennox Neurological Hospital, Reference Center for Refractory Epilepsy UCLouvain [23]
发布时间 2023-03-16
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Human Molecular Genetics

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