机译:基于面板的外核紊乱作为诊断服务的神经肌肉疾病测序
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Department of Neurology Donders Institute for Brain Cognition and Behavior Radboud University;
Department of Pathology Radboud University Medical Center;
Department of Neurology Donders Institute for Brain Cognition and Behavior Radboud University;
Department of Pediatric Neurology Radboud University Medical Center;
Department of Neurology Donders Institute for Brain Cognition and Behavior Radboud University;
Service de Génétique Humaine CHU de Liège;
Department of Genetics University Medical Center Groningen;
Department of Genetics University Medical Center Groningen;
Department of Genetics University Medical Center Groningen;
Department of Genetics University Medical Center Groningen;
Department of Pediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong;
Department of Pediatrics and Adolescent Medicine LKS Faculty of Medicine The University of Hong;
Department of Clinical Genetics Leiden University Medical Center;
Department of Clinical Genetics Leiden University Medical Center;
Center de Génétique Humaine Clinique Universitaires Saint Luc Bruxelles;
Department of Clinical Genetics Amsterdam University Medical Centre;
Department of Neurology Amsterdam Medical Center Amsterdam UMC University of Amsterdam;
Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of;
Department of Clinical Genetics Rigshospitalet Copenhagen;
Department of Clinical Genetics Maastricht University Medical Center+;
Department of Clinical Genetics Maastricht University Medical Center+;
Department of Clinical Genetics Maastricht University Medical Center+;
Department of Child Neurology and Unit for Congenital and Inherited Neuromuscular Disorders Oslo;
Center de Génétique Humaine Institut de Pathologie et de Génétique Gosselies;
Department of Clinical Genetics Erasmus University Medical Center;
Department of Neurology Rigshospitalet;
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
Department of Human Genetics Radboud University Medical Center;
p Center de Génétique Humaine Institut de Pathologie et de Génétique Gosselies;
Neuromuscular diseases; exome sequencing; genetics; neurology; myopathies;
机译:基于面板的外核紊乱作为诊断服务的神经肌肉疾病测序
机译:增加表型注释在罕见的神经肌肉病症中提高了外壳测序的诊断速率
机译:外显子组测序在评估神经肌肉疾病中的诊断作用
机译:临床诊断环境中EXMES测序的开发和实施第一部分。
机译:全 基因组测序 的 患者 效用 智障 和 发展迟缓 的 一线 诊断 测试策略
机译:外显子组测序在评估神经肌肉疾病中的诊断作用
机译:中国儿科发病神经肌肉患者全外膜测序的诊断价值