Lv11
60 积分 2023-02-16 加入
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
3天前
已完结
[Phenotype-genotype analysis of the autosomal recessive hereditary hearing loss caused by OTOA variations]
3天前
已完结
Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay
7天前
已完结
Classification of PTEN germline non-truncating variants: a new approach to interpretation
7天前
已完结
[Genetic heterogeneity of myosin heavy chain 7 gene G823E mutation in familial hypertrophic cardiomyopathy in Chinese]
1个月前
已完结
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
1个月前
已完结
Six novel mutations in the neurofibromatosis type 1 (NF1) gene
1个月前
已完结
Associations between ALDOB polymorphisms and intrahepatic cholestasis of pregnancy susceptibility in the Chinese Han population
1个月前
已完结
Molecular analysis of 12 Chinese patients with 11β-hydroxylase deficiency and in vitro functional study of 20 CYP11B1 missense variants
1个月前
已完结
[Mutation analysis of two pedigrees with suspected oculocutaneous albinism]
1个月前
已完结
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