Lv3
220 积分 2025-04-01 加入
[Dandy-walker syndrome and microdeletions on chromosome 7]
16天前
已完结
Duplication in the SHOX Gene as a Rare Genetic Cause of Short Stature and/or Skeletal Abnormalities: A Clinical Report and Review of the Literature
1个月前
已完结
[A case of HbG Chinese found in Henan]
1个月前
已完结
Epidemiology of autosomal-dominant polycystic kidney disease: an in-depth clinical study for south-western Germany
1个月前
已完结
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
1个月前
已完结
Updated penetrance estimates for recurrent copy number variants – an improved definition and formula
2个月前
已完结
Clinical and molecular characteristics of Thai patients with achondroplasia
3个月前
已关闭
Achondroplasia-hypochondroplasia complex in a newborn infant
3个月前
已完结
Unequal Crossing-Over between Aldosterone Synthase and 11β-Hydroxylase Genes Causes Congenital Adrenal Hyperplasia
3个月前
已完结
A unique exonic splicing mutation in the CYP17A1 gene as the cause for steroid 17α-hydroxylase deficiency
3个月前
已完结
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