Lv3
252 积分 2024-04-24 加入
Mutation profile of Bardet-Biedl syndrome patients from India: Implicative role of multiallelic rare variants and oligogenic inheritance pattern
8天前
已完结
Newly revealed variants of SERPINA3 in generalized pustular psoriasis attenuate inhibition of ACT on cathepsin G
9天前
已完结
Genetic analysis of different subtypes of aseptic pustulosis in the Chinese population
9天前
已完结
Genotype and phenotype characteristics of West syndrome in 20 Vietnamese children: Two novel variants detected by next-generation sequencing
9天前
已完结
Rare variants in MTHFR predispose to occurrence and recurrence of pulmonary embolism
9天前
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
9天前
已关闭
Type II antithrombin deficiency caused by a novel missense mutation (p.Leu417Gln) in a Chinese family
10天前
已完结
Congenital muscle dystrophies: Role of singleton whole exome sequencing in countries with limited resources
12天前
已完结
Regional genotypic variations in normosmic congenital hypogonadotropic hypogonadism: our experience and systematic review
12天前
已完结
Phenotype of 53 Chinese individuals with nicastrin gene mutations in association with familial hidradenitis suppurativa (acne inversa)
14天前
已完结
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