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380 积分 2023-12-07 加入
Deafness: from genetic architecture to gene therapy
3个月前
已完结
[Genetic hearing loss GJB2 c.109G>A (p.Val37Ile) consultation key points and clinical significance]
4个月前
已完结
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
4个月前
已完结
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals
5个月前
已完结
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis
7个月前
已完结
[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome]
11个月前
已关闭
[Consensus statement on diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
11个月前
已完结
Nonsyndromic Hearing Loss and Deafness, Mitochondrial -- GeneReviews(®)
11个月前
已关闭
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