Lv3
330 积分 2024-07-30 加入
MYO15A突变致遗传性聋基因型-表型相关性分析及突变图谱绘制
6个月前
已完结
Genetic etiology of non-syndromic hearing loss in Europe
7个月前
已完结
Hearing Preservation and Spatial Hearing Outcomes After Cochlear Implantation in Children With TMPRSS3 Mutations
8个月前
已完结
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
8个月前
已完结
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients
8个月前
已完结
Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss
8个月前
已完结
Mutations in the TMPRSS3 gene in a cohort of Chinese patients with autosomal recessive nonsyndromic hearing loss
9个月前
已关闭
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
9个月前
已完结
Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3
9个月前
已完结
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan
9个月前
已完结
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