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50 积分 2025-11-12 加入
COL1A1 and COL1A2 variants in Ehlers‐Danlos syndrome phenotypes and COL1‐related overlap disorder
2小时前
待确认
A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression
24天前
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
27天前
已关闭
Mutation Spectrum of Dystrophinopathies in India: Implications for Therapy
1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
2个月前
已完结
KCNT2‐Related Disorders: Phenotypes, Functional, and Pharmacological Properties
2个月前
已完结
Genotype–Phenotype Correlation of ETF Dehydrogenase Gene‐Related Multiple Acyl‐ CoA Dehydrogenation Deficiency in Chinese Patients
2个月前
已完结
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