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110 积分 2024-10-14 加入
The multi-faceted nature of 15 CFTR exonic variations: Impact on their functional classification and perspectives for therapy
7天前
已完结
[Clinical, molecular genetic analysis, and treatment of 3 children with sitosterolemia]
9天前
已完结
The ornithine transcarbamylase (OTC) gene: Mutations in 50 Japanese families with OTC deficiency
13天前
已完结
Lessons on the value of long term follow-up from genetic counselling of a family with severe autosomal recessive congenital ichthyosis
20天前
已完结
Natural history of GM1 gangliosidosis—Retrospective cohort study of 61 French patients from 1998 to 2019
26天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
26天前
已完结
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency
29天前
已完结
Missense mutation analysis of the COL7A1 gene in a pedigree with dominant dystrophic epidermolysis bullosa
29天前
已关闭
Analysis of COL7A1 pathogenic variants in a large cohort of dystrophic epidermolysis bullosa patients from Argentina reveals a new genotype–phenotype correlation
29天前
已完结
Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China
30天前
已完结
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