Lv1
38 积分 2024-12-11 加入
Endogenous retroviruses synthesize heterologous chimeric RNAs to reinforce human early embryo development
28天前
已完结
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
4个月前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
6个月前
已完结
The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD)
8个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
9个月前
已完结
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria]
9个月前
已完结
Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family
11个月前
已完结
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family
11个月前
已完结
Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain
11个月前
已完结
Genetic landscape of human oocyte/embryo defects
1年前
已完结
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