Lv61
2450 积分 2023-09-20 加入
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
7天前
已完结
Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene
8天前
已完结
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening
16天前
已完结
Phenotypic and genotypic correlation evaluation of 148 pediatric patients with Fanconi anemia in a Chinese rare disease cohort
21天前
已完结
Hereditary urea cycle diseases in Finland
27天前
已完结
To B(enign) or Not to B: functionalisation of variant in a mild form of argininosuccinate lyase deficiency identified through newborn screening
28天前
已完结
Amyotrophic lateral sclerosis patients with various gene mutations show diverse motor phenotypes and survival in China
1个月前
已完结
Clinical and genetic features of Chinese pediatric patients with severe congenital protein C deficiency who first presented with purpura fulminans: A case series study and literature review
1个月前
已完结
Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S
1个月前
已完结
Thirty-three novel mutations in the protein C gene. French INSERM network on molecular abnormalities responsible for protein C and protein S
1个月前
已关闭
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