Lv21
158 积分 2023-08-15 加入
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
2小时前
已完结
Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform
1天前
已完结
Research progression of <I>LDLR</I> mutations in Chinese Familial hyper-cholesterolemia
4天前
已完结
Genetic and clinical profile of patients with hypophosphatemic rickets
28天前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
29天前
已关闭
Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias
1个月前
已关闭
A novel mutation in Mitf gene leads to a patient with Waardenburg syndrome type II
1个月前
已关闭
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
1个月前
已完结
Congenital combined pituitary hormone deficiency patients have better responses to gonadotrophin-induced spermatogenesis than idiopathic hypogonadotropic hypogonadism patients
1个月前
已关闭
Comprehensive Analysis of PKD1 and PKD2 by Long-Read Sequencing in Autosomal Dominant Polycystic Kidney Disease
1个月前
已完结
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