Lv21
138 积分 2020-04-09 加入
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1小时前
已完结
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants
7小时前
已完结
A novel de novo synonymous variant in GREB1L impacts the mRNA splicing associated with aplasia of the urogenital system
5天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
13天前
已完结
Assessment of the evidence yield for the calibrated PP3/BP4 computational recommendations
17天前
已完结
Male infertility associated with de novo pericentric inversion of chromosome 1
25天前
已关闭
Molecular and cellular basis for type I heparin cofactor II deficiency (heparin cofactor II Awaji)
1个月前
已完结
Clinical and genetic analysis in a large Chinese cohort of patients with X-linked hypophosphatemia
2个月前
已完结
Identification of novel MLC1 mutations in Chinese patients with megalencephalic leukoencephalopathy with subcortical cysts (MLC)
2个月前
已关闭
[Analysis of clinical features and arylsulfatase B gene mutation in thirteen Chinese children with mucopolysaccharidosis type VI]
2个月前
已完结
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