Lv1
10 积分 2024-02-27 加入
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]
7小时前
待确认
ANGPTL3 Mutations in Unrelated Chinese Han Patients with Familial Hypercholesterolemia
8小时前
已完结
Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants
1个月前
已完结
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency]
1个月前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
1个月前
已完结
Large-scale screening and functional study of DUOXA2 variant in 599 Chinese patients with congenital hypothyroidism
1个月前
已关闭
Molecular characterization of congenital myasthenic syndromes in Spain
1个月前
已完结
Biochemical and molecular analysis of pediatric patients with metachromatic leukodystrophy in South China: functional characterization of five novel ARSA variants
1个月前
已完结
[Clinical and genetic spectrum of 6 cases with asparagine synthetase deficiency]
1个月前
已完结
Identification of 5 novel mutations in the AGXT gene
1个月前
已完结
皖公网安备34019202002308
