Lv5
1378 积分 2025-05-07 加入
Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation
10小时前
已完结
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency
3天前
已完结
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency
3天前
已关闭
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
4天前
已完结
A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia
5天前
已完结
Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis
6天前
已关闭
A novel mutation in hERG gene associated with azithromycin-induced acquired long QT syndrome
18天前
已完结
ATP7B variant spectrum in a French pediatric Wilson disease cohort
21天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
23天前
已完结
[Analysis of SLC25A13 gene variants in 16 infants with intrahepatic cholestasis caused by citrin protein deficiency]
23天前
已完结
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