Lv1
18 积分 2025-02-10 加入
Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy
5小时前
待确认
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
10小时前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
11小时前
已完结
Dravet syndrome: Advances in etiology, clinical presentation, and treatment
1天前
已完结
Structure and function of voltage-dependent sodium channels: comparison of brain II and cardiac isoforms
1天前
已完结
Dravet syndrome
8天前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
1个月前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
1个月前
已完结
Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation
1个月前
已完结
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities
1个月前
已完结
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