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机译:由于ATP1A2中的复合杂合变体,癫痫患儿和复发偏瘫
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
Department of Medical Genetics Centre for Applied Neurogenetics (CAN) University of British;
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
Department of Medical Genetics Centre for Applied Neurogenetics (CAN) University of British;
Department of Medical Genetics Centre for Applied Neurogenetics (CAN) University of British;
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
Department of Medical Genetics University of British Columbia and BC Children's Hospital;
Department of Medical Genetics University of British Columbia and BC Children's Hospital;
Department of Pathology University of British Columbia and BC Children's Hospital;
Department of Medical Genetics Centre for Applied Neurogenetics (CAN) University of British;
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
Division of Neurology Department of Pediatrics University of British Columbia and BC Children's;
ATP1A2; familial hemiplegic migraine; alternating hemiplegia; epilepsy;
机译:由于ATP1A2中的复合杂合变体,癫痫患儿和复发偏瘫
机译:对评论鉴定一个韩国智障,癫痫和儿童早期发作的广泛性肌无力家庭中NEB基因中罕见的复合杂合变异的评论的答复
机译:关于韩国家族中NEB基因稀有化合物杂合变种的评论,具有智力残疾,癫痫和早期儿童发病的广义肌肉弱点
机译:通过成骨不全症类型鉴定导致骨骼脆弱的NBAS中的新型复合杂合变体
机译:LARVA-大规模分析非编码注释中重复变量的综合框架-以及其他用于癌症基因组分析的工具。
机译:Majeed综合征伴发烧和严重中性粒细胞减少症患者的复合杂合LPIN2致病变异:病例报告
机译:复方杂合酶LPIN2致病性变异在具有复发性发烧和严重中性粒细胞症的Majeed综合征患者中:病例报告