Lv5
1398 积分 2025-05-07 加入
Spectrum Analysis of Albinism Genes in a Large Cohort of Chinese Index Patients
11小时前
待确认
Uncommon Dihydropyrimidine Dehydrogenase Mutations and Toxicity by Fluoropyrimidines: A Lethal Case with a New Variant
17小时前
已关闭
A rare variant in the TTR gene (p.E112K) is associated with systemic amyloidosis and a new symptom – skin hyperemia in response to ethanol intake: family segregation analysis, literature review, and a clinical case. Case report
1天前
已完结
Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective
1天前
已完结
Fetal Diagnosis of Supravalvular Aortic Stenosis and Pulmonary Stenosis in a Family with Non-Syndromic Elastin Mutation
7天前
已完结
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency
10天前
已完结
Stroke in young patients with hyperhomocysteinemia due to cystathionine beta-synthase deficiency
10天前
已关闭
Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China
11天前
已完结
A new glucose-6-phosphate dehydrogenase variant (G6PD Tsukui) associated with congenital hemolytic anemia
12天前
已完结
Autosomal dominant polycystic kidney disease coexisting with cystic fibrosis
13天前
已关闭
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