Lv11
30 积分 2023-12-27 加入
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han
2小时前
已完结
Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients
5天前
已完结
Clinical features and gene mutation analysis of patients with Alagille syndrome
6天前
已完结
A novel splice-site variant of the base excision repair gene MYH is associated with production of an aberrant mRNA transcript encoding a truncated MYH protein not localized in the nucleus
6天前
已完结
New insights from unbiased panel and whole-exome sequencing in a large Chinese cohort with disorders of sex development
12天前
已完结
Clinical and molecular characterization of thirty Chinese patients with congenital lipoid adrenal hyperplasia
13天前
已完结
Clinical usefulness of multigene screening with phenotype-driven bioinformatics analysis for the diagnosis of patients with monogenic diabetes or severe insulin resistance
18天前
已完结
A genetic basis is identified in 74% cases of paediatric hyperCKaemia without weakness presenting to a tertiary paediatric neuromuscular centre
25天前
已完结
Whole-exome sequencing identifies genetic variants of hearing loss in 113 Chinese families
26天前
已完结
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
1个月前
已完结
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