Lv1
64 积分 2024-02-27 加入
Identification of novel variants in hereditary spherocytosis patients by whole-exome sequencing
15天前
已完结
Genetic mutations resulting in loss of aromatase activity in humans and mice
15天前
已关闭
Aromatase Deficiency in a Female Who Is Compound Heterozygote for Two New Point Mutations in the P450arom Gene: Impact of Estrogens on Hypergonadotropic Hypogonadism, Multicystic Ovaries, and Bone Densitometry in Childhood1
15天前
已完结
Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family
1个月前
已完结
[Comparative study of gene mutation between Chinese patients with familial and sporadic hypertrophic cardiomyopathy]
1个月前
已完结
[A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy]
1个月前
已关闭
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
1个月前
已完结
Detection of 100% of the CFTR mutations in 63 CF families from Tyrol
1个月前
已完结
Molecular characterization of familial hypercholesterolemia in German and Greek patients
1个月前
已完结
皖公网安备34019202002308
