Lv2
150 积分 2023-01-07 加入
Loss-of-function variants in GLMN are associated with generalized skin hyperpigmentation with or without glomuvenous malformation
7小时前
已完结
Microcephaly primary hereditary (MCPH): Report of novel ASPM variants and prenatal diagnosis in a Vietnamese family
5天前
已完结
The role of genetics in Parkinson's disease: a large cohort study in Chinese mainland population
12天前
已关闭
Little discrepancy between one-stage and chromogenic factor VIII (FVIII)/IX assays in a large international cohort of persons with nonsevere hemophilia A and B
16天前
已完结
Systematic analysis of fertility and clinical outcomes of assisted reproductive technology in Chinese patients with autosomal dominant polycystic kidney disease
1个月前
已完结
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
2个月前
已完结
Whole-genome DNA sequencing: The key to detecting a sarcomeric mutation in a ‘false genotype-negative’ family with hypertrophic cardiomyopathy
2个月前
已完结
Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland
2个月前
已完结
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory
2个月前
已关闭
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