机译:以色列人群中FSHD(腓肠腓肠肌营养不良症)的遗传咨询和检测
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;
Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel;
Molecular Genetics Laboratory, Wolfson Medical Center, Holon, Israel;
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;
Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel;
Metabolic Neurogenetic Clinic, Wolfson Medical Center, Holon, Israel;
Department of Neurology, Wolfson Medical Center, Holon, Israel;
Institute of Medical Genetics, Wolfson Medical Center, Holon, Israel;
FSHD (Facioscapulohumeral Muscular Dystrophy); Genetic counseling; Presymptomatic testing;
机译:以色列人群中FSHD(肩oh肱型肌营养不良症)的遗传咨询和检测
机译:面部鞘膜妇毒营养不良型1和2(FSHD1和FSHD2)的诊断遗传检测
机译:使用SMCHD1 P.Lys6070707突变产生从围网瓣肌营养不良型2(FSHD2)患者的转基因的IPSC线和转基因型线
机译:面肩肱型营养不良患者胫前肌收缩的超声成像
机译:面肩肱型肌营养不良症的基因治疗。
机译:在4号染色体上的遗传和物理定位缩小了面肩肱肱肌营养不良症(FSHD)的基因定位。
机译:“临床,肌肉病理学,日本患者的临床,肌肉病理和遗传特征2(FSHD2)的SMCHD1突变患者的突变特征”