Lv44
760 积分 2023-12-01 加入
Walking alone milestone combined reading-frame rule improves early prediction of Duchenne muscular dystrophy
2小时前
求助中
Duplications in the DMD gene
8小时前
已完结
Analysis of a Chinese pedigree affected with Meckel syndrome due to variants of TMEM67 gene
6天前
已完结
Neonate with Congenital Thrombotic Thrombocytopenic Purpura: a Case Report of a de novo Compound Heterozygote Mutation in ADAMTS13 Gene and Review of Literature
23天前
已完结
Clinical Utility of Next-Generation Sequencing for Developmental Disorders in the Rehabilitation Department: Experiences from a Single Chinese Center
27天前
已完结
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease
30天前
已完结
Current understanding of ELF4 deficiency: a novel inborn error of immunity
30天前
已完结
A Novel Frameshift Variant of the ELF4 Gene in a Patient with Autoinflammatory Disease: Clinical Features, Transcriptomic Profiling and Functional Studies
30天前
已完结
A Multicenter Cohort Study of Immune Dysregulation Disorders Caused by ELF4 Variants in China
30天前
已完结
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSAL
1个月前
已完结
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