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82 积分 2023-11-24 加入
von Willebrand factor variants in C3 glomerulopathy: A Chinese cohort study
19小时前
待确认
Homozygous variants in AKAP3 induce asthenoteratozoospermia and male infertility
12天前
已完结
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]
12天前
已完结
[Molecular genetic analysis of 10 Chinese patients with glycogen storage disease type III]
26天前
已关闭
Clinical exome sequencing findings in 1589 patients
26天前
已完结
Novel biallelic mutations in PADI6 in patients with early embryonic arrest
28天前
已完结
Pathogenic bi‐allelic variants of meiotic ZMM complex gene SPO16 in premature ovarian insufficiency
1个月前
已完结
The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles
2个月前
已关闭
[Genetic variant analysis and prenatal diagnosis for Chinese pedigrees affected with cblC methylmalonic acidemia]
3个月前
已完结
The mutation spectrum of SLC25A13 gene in citrin deficiency: identification of novel mutations in Vietnamese pediatric cohort with neonatal intrahepatic cholestasis
4个月前
已完结
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