机译:坐满股份中函数变体的双重损失导致产前发病栓塞发育不全,微头畸形和腺血清症。
Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands;
Laboratory Genetic Metabolic Diseases Academic Medical Center Amsterdam The Netherlands;
Laboratory Genetic Metabolic Diseases Academic Medical Center Amsterdam The Netherlands;
Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands;
Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands;
Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School;
Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School;
Department of Clinical Genetics Academic Medical Center Amsterdam The Netherlands;
Department of Pediatric Neurology Academic Medical Center Amsterdam The Netherlands;
Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School;
Laboratory Genetic Metabolic Diseases Academic Medical Center Amsterdam The Netherlands;
Department of Medical Genetics and Alberta Children's Hospital Research Institute Cumming School;
Department of Clinical Genetics Leiden University Medical Center Leiden The Netherlands;
机译:坐满股份中函数变体的双重损失导致产前发病栓塞发育不全,微头畸形和腺血清症。
机译:TOE1中功能突变的双曲线损失引起稀有的Pontocerebellar发育性7型
机译:SLC25A46中双腿式功能突变表型的延伸至严重形式的Pontocerebellar发育性I型
机译:核内耳蜗电极阵列的设计和听力下降的发作年龄对电诱发的复合动作电位的生长和激发功能的扩散有影响。
机译:COASY中双等位基因功能变异的丧失会导致产前发作性小脑发育不全小头畸形和关节炎
机译:婴幼儿术语中鉴定的双层rttn变体的功能表征,简化的陀螺仪,蓬皮甲虫发育性和癫痫发作