Lv4
540 积分 2022-11-01 加入
Functional analysis of ABCB4 mutations relates clinical outcomes of progressive familial intrahepatic cholestasis type 3 to the degree of MDR3 floppase activity
15小时前
求助中
Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene
1天前
已完结
X‐linked BCOR variants identified in Chinese Han patients with congenital heart disease
15天前
已完结
X‐linked BCOR variants identified in Chinese Han patients with congenital heart disease
21天前
已完结
Clinical impact of whole-genome sequencing in patients with early-onset dementia
2个月前
已关闭
Non-invasive prenatal testing for dominant single-gene disorders using targeted next-generation sequencing
2个月前
已完结
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
3个月前
已完结
A phenotype-enhanced variant classification framework to decrease the burden of missense variants of uncertain significance in type 1 long QT syndrome
3个月前
已完结
[Guidelines for the application of copy number variation testing in prenatal diagnosis]
3个月前
已完结
Truncation mutations of CRYGD gene in congenital cataracts cause protein aggregation by disrupting the structural stability of γD-crystallin
4个月前
已完结
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