Lv11
6 积分 2024-11-11 加入
Molecular diagnosis of 65 families with mucopolysaccharidosis type II (Hunter syndrome) characterized by 16 novel mutations in the IDS gene: Genetic, pathological, and structural studies on iduronate-2-sulfatase
22分钟前
待确认
Newborn screening for mucopolysaccharidosis type II: Lessons learned
16小时前
已完结
A Novel, Recurrent, 3.6-kb Deletion in the PYGL Gene Contributes to Glycogen Storage Disease Type VI
3个月前
已完结
Clinical Significance of UGT1A1 Genetic Analysis in Chinese Neonates with Severe Hyperbilirubinemia
3个月前
已完结
A simple and robust quantitative PCR assay to determine CYP21A2 gene dose in the diagnosis of 21-hydroxylase deficiency
3个月前
已完结
A genetic epidemiology study of congenital adrenal hyperplasia in Italy
3个月前
已完结
A sequence variation in 3'UTR of CYP21A2 gene correlates with a mild form of congenital adrenal hyperplasia
3个月前
已完结
Genetic epidemiology of thalassemia in couples of childbearing age: over 6 years of a thalassemia intervention project
3个月前
已完结
Prevalence and genetic analysis of α-thalassemia and β-thalassemia in Chongqing area of China
3个月前
已完结
Thalassemia genetic screening of pregnant women with anemia in Northern China through comprehensive analysis of thalassemia alleles (CATSA)
3个月前
已完结
皖公网安备34019202002308
