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358 积分 2023-10-12 加入
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
2天前
已完结
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
3天前
已完结
Biallelic mutations in pakistani families with autosomal recessive prelingual nonsyndromic hearing loss
3天前
已完结
Expanded targeted preconception screening panel in Israel: findings and insights
4天前
求助中
Expanded targeted preconception screening panel in Israel: findings and insights
4天前
已完结
Identification of novel common mutations among patients with non-syndromic hearing loss with high-throughput gene capture technology
12天前
已完结
Next-generation sequencing for genetic testing of hearing loss populations
12天前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
13天前
已完结
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer
13天前
已完结
Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation
15天前
已关闭
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