Lv31
348 积分 2022-03-21 加入
Spectrum of HBB gene mutations among 696 β–thalassemia patients and carriers in Southern Vietnam
4小时前
已完结
3β-Hydroxysteroid Dehydrogenase Type 2 (3βHSD2) Deficiency due to a Novel Compound Heterozygosity of a Missense Mutation (p.Thr259Met) and Frameshift Deletion (p.Lys273ArgFs*7) in an Undervirilized Infant Male with Salt Wasting
2天前
求助中
Apparent Sotos syndrome (cerebral gigantism) in a child with trisomy 20p11.2-p12.1 mosaicism
1个月前
已完结
3q29 duplications: A cohort of 46 patients and a literature review
3个月前
已完结
Genetic analysis and novel variation identification in Chinese patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
3个月前
已完结
[Magnetic resonance tomography in hepatocellular carcinoma and idiopathic hemochromatosis]
3个月前
已关闭
[Mutation analysis in families with 21-hydroxylase deficiency]
3个月前
已关闭
Phenotypic Heterogeneity and Fertility Potential of Patients with 17-Hydroxylase/17,20-lyase Deficiency
4个月前
已完结
Contribution of Clinical and Genetic Approaches for Diagnosing 209 Index Cases With 46,XY Differences of Sex Development
4个月前
已完结
Genetic testing, ultrasonography and preimplantation genetic testing of men with autosomal dominant polycystic kidney disease in Hunan, China
5个月前
已完结
皖公网安备34019202002308
