Lv1
50 积分 2024-12-11 加入
Adult type I Gaucher disease with splenectomy caused by a compound heterozygous GBA1 mutation in a Chinese patient: a case report
3个月前
已完结
Analysis of CYP27A1 mutations in Han Chinese women with intrahepatic cholestasis of pregnancy
4个月前
已完结
The diagnostic challenge in very‐long chain acyl‐CoA dehydrogenase deficiency (VLCADD)
7个月前
已完结
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
7个月前
已完结
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria]
7个月前
已完结
Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family
10个月前
已完结
A Two-Base Pair Deletion in IQ Repeats in ASPM Underlies Microcephaly in a Pakistani Family
10个月前
已完结
Cardiomyopathy-associated variants alter the structure and function of the α-actinin-2 actin-binding domain
10个月前
已完结
Genetic landscape of human oocyte/embryo defects
10个月前
已完结
基因检测为反复IVF/ICSI助孕失败患者提供理论参考
11个月前
已完结
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