Lv51
1270 积分 2024-11-08 加入
Accelerated death of megakaryocytes from Wiskott–Aldrich syndrome patients
2天前
已完结
A novel pathogenic variant at the C‐terminal propeptide cleavage site of COL1A1, causing osteogenesis imperfecta with intrafamilial variability
2天前
已完结
Trisomy 6qter
16天前
已完结
Twenty‐five additional cases of trisomy 9 mosaic: Birth information, medical conditions, and developmental status
26天前
已完结
Prenatal diagnosis of trisomy 9. Six cases and a review of the literature
26天前
已完结
Prenatal Diagnosis of Complete Trisomy 9 With a Novel Sonographic Finding of Heart Calcification
26天前
已完结
A Novel nonsense variant in the CDH2 gene associated with ACOGS: A case report
30天前
已完结
Cadherin 2-Related Arrhythmogenic Cardiomyopathy
30天前
已关闭
p.H62L, a Rare Mutation of the CYP21 Gene Identified in Two Forms of 21-Hydroxylase Deficiency
1个月前
已完结
Substitutions in the CYP21A2 promoter explain the simple-virilizing form of 21-hydroxylase deficiency in patients harbouring a P30L mutation
1个月前
已完结
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