机译:De Novo截断WASF1中的突变导致癫痫发作的智力残疾
Children’s Hospital of Eastern Ontario Research Institute University of Ottawa;
Department of Haematology University of Cambridge;
Hospital Dona Estefania Centro Hospitalar de Lisboa Central;
Children’s Hospital of Eastern Ontario Research Institute University of Ottawa;
Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares H;
Developmental Neurosciences Great Ormond Street Institute of Child Health University College;
Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares H;
Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares H;
Centro de Neuropediatria e Desenvolvimento Centro Hospitalar Universitário do Algarve;
Département de Génétique et Centre de Référence Déficiences Intellectuelles de Causes Rares H;
Department of Human Genetics Radboudumc Donders Institute for Brain Cognition and Behaviour;
Department of Haematology University of Cambridge;
Department of Human Genetics Radboudumc Donders Institute for Brain Cognition and Behaviour;
University of Groningen University Medical Centre Groningen Department of Genetics;
University of Groningen University Medical Centre Groningen Department of Genetics;
Children’s Hospital of Eastern Ontario Research Institute University of Ottawa;
Children’s Hospital of Eastern Ontario Research Institute University of Ottawa;
Department of Pediatrics Dalhousie University;
NIHR BioResource Cambridge University Hospitals NHS Foundation Trust Cambridge Biomedical Campus;
WASF1; WAVE1 complex; neurodevelopmental disorder; autism; seizures; lamellipodia; actin cytoskeleton; recurrentde novotruncating mutations; developmental delay;
机译:De Novo截断WASF1中的突变导致癫痫发作的智力残疾
机译:从头截短线粒体-微管附着基因CHAMP1中的突变导致综合征性智力障碍。
机译:X连锁基因 CLCN4 i>中的从头 i>和遗传突变与男性和女性的综合征性智力障碍,行为和癫痫发作有关
机译:动态翘曲对智力障碍患者的癫痫发作检测
机译:神经发育障碍中的Novo畸形突变
机译:从头截断WASF1中的突变导致癫痫发作导致智力残疾
机译:PPM1D最后和倒数第二个外显子的从头截短突变引起智力障碍综合症