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78 积分 2025-02-10 加入
Unravelling of the molecular mechanisms of kidney stones. Report of a Meeting of Physicians and Scientists
3个月前
已关闭
Mutation Update ofARSAandPSAPGenes Causing Metachromatic Leukodystrophy
3个月前
已完结
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
3个月前
已完结
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
3个月前
已完结
Dravet syndrome: Advances in etiology, clinical presentation, and treatment
3个月前
已完结
Structure and function of voltage-dependent sodium channels: comparison of brain II and cardiac isoforms
3个月前
已完结
Dravet syndrome
3个月前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
4个月前
已完结
Genotype–phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations
4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
4个月前
已完结
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