Lv31
380 积分 2021-12-03 加入
Severe Exudative Vitreoretinopathy as a Common Feature for CTNNB1, KIF11 and NDP Variants Plus Sector Degeneration for KIF11
1小时前
待确认
Identification of a Novel 974C?G Nonsense Mutation of the MRP2/ABCC2 Gene in a Patient with Dubin-Johnson Syndrome and Analysis of the Effects of Rifampicin and Ursodeoxycholic Acid on Serum Bilirubin and Bile Acids
7天前
已完结
Clinical and genetic analysis of the ABCA4 gene associated retinal dystrophy in a large Chinese cohort
14天前
已完结
Phenotype and genotype analysis of patients with severe factor XI deficiency in Shaanxi Province, China
2个月前
已完结
Clinical manifestations and mutation spectrum of 57 subjects with congenital factor XI deficiency in China
2个月前
已完结
[Clinical analysis of seven cases with primary hyperoxaluria type 1 in children]
3个月前
已完结
Genetic heterogeneity in primary hyperoxaluria type 1: impact on diagnosis
3个月前
已关闭
Mutational analysis of AGXT gene in Libyan children with primary hyperoxaluria type 1 at Tripoli Children Hospital
3个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
3个月前
已完结
Identification of mutations in 15 nephrolithiasis-related genes leading to a molecular diagnosis in 85 Chinese pediatric patients
3个月前
已完结
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