Lv72
5000 积分 2023-11-02 加入
[Analysis of clinical features, biochemical indices and genetic variants among children with Short/branched-chain acyl-CoA dehydrogenase deficiency detected by neonatal screening]
23小时前
已完结
Genebe.net: Implementation and validation of an automatic ACMG variant pathogenicity criteria assignment
4天前
已完结
HCSeeker: A classification tool for human genetic variant hot and cold spots designed for PM1 and benign criteria in the ACMG-AMP guideline
7天前
已完结
A novel mutation compounded with a known mutation in TGM1 associated with severe lamellar ichthyosis and intellectual disability
21天前
已完结
Cryo-EM structure of the human subcortical maternal complex and the associated discovery of infertility-associated variants
1个月前
已完结
NLRP7 participates in the human subcortical maternal complex and its variants cause female infertility characterized by early embryo arrest
1个月前
已完结
Genetic architecture and phenotypic diversity of oocyte and early embryo competence defects in female infertility
1个月前
已完结
Identification of nonfunctional PABPC1L causing oocyte maturation abnormalities and early embryonic arrest in female primary infertility
1个月前
已完结
Genetics of male infertility
1个月前
已完结
The genetic basis of male and female infertility
1个月前
已完结
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