Lv1
30 积分 2023-11-22 加入
Analysis of the features of neurofibromatosis type 1 in the Republic of Bashkortostan
16小时前
求助中
Two novel mutations affecting mRNA splicing of the neurofibromatosis type 1 (NF1) gene
16小时前
已完结
[Gene mutation analysis in patients with propionic acidemia]
15天前
已完结
Three new founder mutations in Chinese patients with Nagashima-type palmoplantar keratoderma
28天前
已完结
Neurological insights on two siblings with GM3 synthase deficiency due to novel compound heterozygous ST3GAL5 variants
29天前
已完结
Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects
1个月前
已完结
Molecular diagnosis of hereditary canalicular cholestasis and familial hyperbilirubinemias
1个月前
已关闭
Natural history of Becker muscular dystrophy: DMD gene mutations predict clinical severity
1个月前
已完结
Clinical Diagnosis and Genetic Analysis of Children With Muscular Dystrophies
1个月前
已完结
The spectrum of FVIII gene variants detected by next generation sequencing in 236 Chinese non-inversion hemophilia A pedigrees
2个月前
已完结
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