机译:SH3TC2基因在与耳聋和/或脊柱侧凸相关的Charcot-Marie-Dooth疾病中的含义:具有四种新致病变种的插图
CHU Limoges Serv Otorhinolaryngol Limoges France;
Univ Limoges EA6309 Limoges France;
Univ Limoges EA6309 Limoges France;
Univ Limoges EA6309 Limoges France;
CHU Limoges Serv Biochim &
Genet Mol Limoges France;
CHU Limoges Serv Biochim &
Genet Mol Limoges France;
Ctr Hosp Pau Pediat Pau France;
CHU Toulouse Serv Genet Med Toulouse France;
CHU Toulouse Serv Genet Med Toulouse France;
CHU Toulouse Serv Neurol &
Explorat Fonct Toulouse France;
CHU Poitiers Serv Med Phys &
Reeduc Poitiers France;
Ctr Hosp Bretagne Atlantique Serv Genet Med Vannes France;
CHU Poitiers Serv Genet Med Poitiers France;
CHU Bordeaux Serv Neurogenet Bordeaux France;
Ctr Hosp Bretagne Atlantique Serv Genet Med Vannes France;
Ctr Hosp Univ Clermont Ferrand Serv Genet Med Limoges France;
Univ Limoges EA6309 Limoges France;
Ctr Hosp Univ Clermont Ferrand Serv Neurol Limoges France;
CHU Tours Serv Genet Tours France;
Ctr Hosp Hendaye AP HP Filnemus Ctr Competence Neuromusculaire Filnemus France;
Univ Limoges EA6309 Limoges France;
Univ Limoges EA6309 Limoges France;
Charcot-Marie-Tooth; Neuropathy; Hearing loss; Scoliosis; SH3TC2; NGS;
机译:SH3TC2基因在与耳聋和/或脊柱侧凸相关的Charcot-Marie-Dooth疾病中的含义:具有四种新致病变种的插图
机译:SH3TC2基因中的p.R1109X突变在患有Charcot-Marie-Tooth疾病类型为4的西班牙吉普赛人中占主导地位。
机译:基因面板测序法快速鉴定两例夏氏齿病的致病变异
机译:纯合子映射使用全exome测序:一种有价值的遗传疾病致病变异鉴定的方法
机译:在遗传癌基因中具有不确定意义的个体的医学决策,以及Chek2致病变异的人
机译:基因面板测序法快速鉴定两例夏氏齿病的致病变异
机译:基因面板序列快速鉴定2例腓骨肌萎缩症病原菌变异