Lv1
40 积分 2024-10-28 加入
l -2-Hydroxyglutaric aciduria: two Japanese adult cases in one family
2天前
已完结
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
9天前
已完结
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
15天前
已关闭
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism
18天前
已关闭
Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology
25天前
已完结
Targeted sequencing and integrative analysis of 3,195 Chinese patients with neurodevelopmental disorders prioritized 26 novel candidate genes
29天前
已完结
Variant analysis of F8 in 123 patients with hemophilia A: Identification of 18 novel variants
1个月前
已完结
3M syndrome: Evaluating the clinical and laboratory features and the response of the growth hormone treatment: Single center experience
1个月前
已完结
P187: A clinical-translational model of leukoencephalopathy with calcifications and cysts*
1个月前
已关闭
ABCB4 variants in adult patients with cholestatic disease are frequent and underdiagnosed
2个月前
已完结
皖公网安备34019202002308
