Lv1
60 积分 2025-10-31 加入
Gitelman's syndrome: report of one case
21小时前
求助中
Functional characterization of novel or yet uncharacterized ATP7B missense variants detected in patients with clinical Wilson's disease
3天前
已完结
Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome
22天前
已完结
HyperCKemia: An early sign of childhood-onset neutral lipid storage disease with myopathy
1个月前
已完结
Analyzing the effects of BRCA1/2 variants on mRNA splicing by minigene assay
1个月前
已完结
[Analysis of SATB2 gene mutation in a child with Glass syndrome]
2个月前
已完结
SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome
4个月前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
5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
Genetic analysis of isolated methylmalonic acidemia in Henan, China: c.1663G>A variant of MMUT prevalent in the Henan population
7个月前
已完结
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