Lv11
10 积分 2026-07-15 加入
Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex
1小时前
求助中
Three novel aniridia mutations in the human PAX6 gene
8天前
已完结
Screening of a large PAX6 cohort identified many novel variants and emphasises the importance of the paired and homeobox domains
8天前
已完结
Clinical evaluation and molecular analysis of genetic and epigenetic inactivation defects in GNAS in children: A multicenter experience in China
9天前
已完结
Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome
11天前
已完结
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases
1个月前
已完结
Characterization of glucose-6-phosphate dehydrogenase in Thailand. The occurrence of 6 variants among 50 G-6-PD deficient Thai
1个月前
已关闭
Next generation sequencing in children with unexplained epilepsy: A retrospective cohort study
2个月前
已完结
[Genotype and phenotype correlation of phenylalanine hydroxylase deficiency among patients from Henan]
2个月前
已完结
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