Lv6
3190 积分 2021-09-02 加入
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
18天前
已完结
Understanding the genetic architecture and phenotypic landscape of SPTB gene variants causing hereditary spherocytosis in an Indian cohort
18天前
已关闭
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains
20天前
已完结
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
23天前
已完结
Genotype–phenotype relations for episodic ataxia genes: MDSGene systematic review
23天前
已完结
儿童儿茶酚胺敏感性多形性室性心动过速临床分析
1个月前
已完结
From onset to blindness: a comprehensive analysis ofRPGR-associated X-linked retinopathy in a large cohort in China
1个月前
已完结
Clinical phenotypic characteristics in patients carrying MYH7-R143Q mutation with hypertrophic cardiomyopathy
1个月前
已完结
Emergence of lingual dystonia and strabismus in early‐onset SCN8A self‐limiting familial infantile epilepsy
1个月前
已完结
Genetic Basis of Childhood Cardiomyopathy
1个月前
已完结
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