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34 积分 2025-08-12 加入
Genetic landscape of hearing loss in prelingual deaf patients of eastern Iran: Insights from exome sequencing analysis
1小时前
待确认
Genetic Spectrum Identified by Exome Sequencing in a Chinese Pediatric Cerebral Palsy Cohort
3天前
已完结
A novel homozygous missense mutation in L-2-HGA gene: A case report
3天前
已完结
Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity
6天前
已完结
Expanding the Genetic and Phenotypic Spectrum of Female Infertility Caused by TUBB8 Mutations
7天前
已完结
Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF
7天前
已完结
[Genotypic analysis of familial dilated vestibular aqueduct syndrome]
29天前
已关闭
Guidelines and recommendations for testing of Cx26 mutations and interpretation of results
1个月前
已关闭
Novel homozygous or compound heterozygous DNAH17 variants lead to male infertility characterized by multiple morphological abnormalities of the sperm flagella and asthenoteratozoospermia in humans
1个月前
已完结
Rare loss-of-function variants in FLNB cause non-syndromic orofacial clefts
1个月前
已完结
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