Lv1
46 积分 2025-06-30 加入
Telomere biology disorders may manifest as common variable immunodeficiency (CVID)
12天前
已完结
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene
1个月前
已完结
Reassessment of the NF1 variants of unknown significance found during the 20-year activity of a genetics diagnostic laboratory
2个月前
已完结
DNA polymerase delta Exo domain stabilizes mononucleotide microsatellites in human cells
3个月前
已完结
[Molecular genetic characteristics of a family which coinheritance of rare-88 C>G (HBB:c.-138 C>G) β-thalassemia mutation with α-thalassemia and review of the literature]
3个月前
已完结
Spectrum mutations of PRF1, UNC13D, STX11, and STXBP2 genes in Vietnamese patients with hemophagocytic lymphohistiocytosis
4个月前
已完结
Telomerase gene variants and telomere shortening in patients with silicosis or asbestosis
4个月前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
5个月前
已完结
Clinical and molecular characterization of Italian patients affected by Cohen syndrome
5个月前
已完结
Endothelial Activation and Stress Index Serves as a Predictor for Survival in Lymphoma‐Associated Hemophagocytic Lymphohistiocytosis: A Retrospective Multicenter Cohort Study of Jiangsu Cooperative Lymphoma Group
5个月前
已完结