Lv1
78 积分 2025-02-10 加入
A Splice-Site Variant in ACY1 Associated with Congenital Hearing Loss: Clinical, Biochemical, and Zebrafish Functional Evidence
12天前
已完结
Unravelling of the molecular mechanisms of kidney stones. Report of a Meeting of Physicians and Scientists
6个月前
已关闭
Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy
6个月前
已完结
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
6个月前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
6个月前
已完结
Dravet syndrome: Advances in etiology, clinical presentation, and treatment
6个月前
已完结
Structure and function of voltage-dependent sodium channels: comparison of brain II and cardiac isoforms
6个月前
已完结
Dravet syndrome
6个月前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
7个月前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
7个月前
已完结
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