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336 积分 2023-04-17 加入
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages
7天前
已完结
Genetic screening reveals hotspot variants and prevalence rates of Hermansky-Pudlak syndrome in the Chinese population
9天前
已关闭
Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases
12天前
已关闭
Clinical and genetic investigation in patients with permanent congenital hypothyroidism
12天前
已完结
Biochemical and structural impact of two novel missense mutations in cystathionine β-synthase gene associated with homocystinuria
15天前
已完结
Clinical and genetic spectrum of mitochondrial DNA depletion syndromes: A report of 6 cases with 4 novel variants
20天前
已完结
Clinical Exome Sequencing Identifies, Two Homozygous LOXHD1 Variants in Two Inbred Families With Pre‐Lingual Hearing Loss From South India
20天前
已完结
A comprehensive study of mutation and phenotypic heterogeneity of childhood mitochondrial leukodystrophies
1个月前
已完结
Microconversion betweenCYP21A2andCYP21A1PPromoter Regions Causes the Nonclassical Form of 21-Hydroxylase Deficiency
1个月前
已完结
Novel compound heterozygous CYP17A1 mutations identified in a family with two siblings affected by 17α-hydroxylase/17,20-lyase deficiency
1个月前
已完结
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