Lv1
80 积分 2023-04-04 加入
ATP8B1, ABCB11, and ABCB4 Genes Defects: Novel Mutations Associated with Cholestasis with Different Phenotypes and Outcomes
10天前
已完结
Riboflavin-responsive multiple Acyl-CoA dehydrogenation deficiency in 13 cases, and a literature review in mainland Chinese patients
21天前
已完结
Newborn screening of maple syrup urine disease and the effect of early diagnosis
1个月前
已完结
Molecular diagnosis of adult patients with clinically unexplained hypokalemia without hypertension demonstrated a diagnostic yield of 30.5%
1个月前
已完结
Brugada syndrome in Portugal: a cohort characterization
2个月前
已完结
Genetic mutation analysis of 22 patients with congenital absence of vas deferens: a single-center study
3个月前
已完结
[Mutation of thyroid peroxidase gene in 35 patients with congenital hypothyroidism]
4个月前
已关闭
Screening of 1.17 million newborns for inborn errors of metabolism using tandem mass spectrometry in Shanghai, China: A 19-year report
4个月前
已完结
Novel loss‐of‐function variants in DNAH17 cause multiple morphological abnormalities of the sperm flagella in humans and mice
4个月前
已完结
The phenotype of Charcot–Marie–Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy
4个月前
已完结
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