Lv11
10 积分 2024-12-23 加入
Four novel CYP27A1 mutations in seven Italian patients with CTX
59秒前
待确认
A Novel Arg362Ser Mutation in the Sterol 27-Hydroxylase Gene (CYP27): Its Effects on Pre-mRNA Splicing and Enzyme Activity
8分钟前
已完结
Whole dystrophin gene analysis by next-generation sequencing: a comprehensive genetic diagnosis of Duchenne and Becker muscular dystrophy
35分钟前
已完结
Genetic etiology in patients diagnosed with congenital hypothyroidism with new-generation sequencing: A single-center experience
4个月前
已完结
Genetic Features of Chinese Patients with Gitelman Syndrome: Sixteen Novel SLC12A3 Mutations Identified in a New Cohort
4个月前
已完结
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
6个月前
已完结
Correction: 2020 Western Medical Research Conference
6个月前
已关闭
Inactivation of CHEK1 and EI24 is associated with the development of invasive cervical carcinoma: Clinical and prognostic implications
6个月前
已完结
SUFU‐associated Gorlin syndrome: Expanding the spectrum between classic nevoid basal cell carcinoma syndrome and multiple hereditary infundibulocystic basal cell carcinoma
6个月前
已完结
Case series: Downbeat nystagmus in SCA27B
6个月前
已完结
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