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118 积分 2026-06-22 加入
New insights into CC2D2A-related Joubert syndrome
4天前
求助中
New insights into CC2D2A-related Joubert syndrome
4天前
已完结
A case series of joubert syndrome evaluated with whole exome sequencing and the utility of optical genome mapping in the diagnosis
4天前
已完结
The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort
6天前
已完结
Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population
7天前
已完结
USH2A variants in Chinese patients with Usher syndrome type II and non-syndromic retinitis pigmentosa
10天前
已关闭
Genetic Characterization of Kidney Failure of Unknown Etiology in Spain: Findings From the GENSEN Study
11天前
已完结
Prevalence of genetically confirmed skeletal muscle channelopathies in the era of next generation sequencing
23天前
已完结
Predicting the likelihood of BRCA1/2 germline pathogenic variants in unselected patients with breast cancer: analysis of more than 10,000 individuals
26天前
已完结
Analysis of germline-somatic mutational connections in colorectal cancer reveals differential tumorigenic patterns and a novel predictive marker for germline mutation carriers
26天前
已完结
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