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380 积分 2023-12-07 加入
Deafness: from genetic architecture to gene therapy
2个月前
已完结
[Genetic hearing loss GJB2 c.109G>A (p.Val37Ile) consultation key points and clinical significance]
2个月前
已完结
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
3个月前
已完结
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals
3个月前
已完结
The pathological effects of connexin 26 variants related to hearing loss by in silico and in vitro analysis
5个月前
已完结
[Analysis of AGG interspersion of the FMR1 gene in fragile X syndrome]
10个月前
已关闭
[Consensus statement on diagnosis and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency]
10个月前
已完结
Nonsyndromic Hearing Loss and Deafness, Mitochondrial -- GeneReviews(®)
10个月前
已关闭
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