Lv1
40 积分 2025-11-12 加入
Inflammatory bowel disease in STAT1 gain-of-function immunodeficiency treated with precision medicine
1个月前
已完结
A Global Approach to the Long-Term Follow-Up of 17 Families With Bilateral Macronodular Adrenal Disease
1个月前
已完结
A Complex FGF14 ( TTC )/( TGC ) Repeat Expansion in Parkinson's Disease
3个月前
已完结
Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease
3个月前
已完结
Pitfalls of whole exome sequencing in undefined clinical conditions with a suspected genetic etiology
3个月前
已完结
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
3个月前
已完结
A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression
4个月前
已完结
Antibody-mediated multicellular pathophysiology of heparin-induced thrombocytopenia and vaccine-induced thrombotic thrombocytopenia: the dynamic roles of platelets, neutrophils, endothelial cells, and monocytes
4个月前
已关闭
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy
5个月前
已完结
Prenatal diagnosis of SRY(+) 45,X male and the confirmation of high-level mosaicism for 45,X in 45,X/46,X,del(Y) (q11.222) in a fetus with a favorable fetal outcome and perinatal progressive decrease of the 45,X cell line
5个月前
已完结
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