Lv61
1900 积分 2023-12-18 加入
TBXAS1 deficiency causes autoinflammation responsive to IL-6 inhibitor
1小时前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
6天前
已完结
Two novel variants of the CAPN3 gene in Chinese patients with Limb-Girdle Muscular Dystrophy Recessive 1
6天前
已完结
A novel mutation (Leu60Pro) in a Chinese pedigree with hereditary factor XI deficiency
7天前
已完结
Gene Variants in Two Families with Inherited Coagulation Factor XI Deficiency and Identification of Mutations
7天前
已完结
Next generation sequencing for diagnosis of hereditary anemia: Experience in a Spanish reference center
12天前
已完结
Impaired development of B cells with PRF1 variants in an adult
13天前
已完结
High‐risk screening for late‐onset Pompe disease in China: An expanded multicenter study
13天前
已完结
Novel mutation in alpha-spectrin gene in Saudi patients with hereditary spherocytosis
14天前
已完结
A simple clinical score to promote and enhance ferroportin disease screening
16天前
已完结
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