Lv21
140 积分 2025-06-10 加入
Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort
10小时前
待确认
Novel Variant Findings and Challenges Associated With the Clinical Integration of Genomic Testing
7天前
已完结
New Insights Into the Spectrum of RASopathies: Clinical and Genetic Data in a Cohort of 121 Spanish Patients
21天前
已完结
Mutation profiles and clinical characteristics of Chinese males with isolated hypogonadotropic hypogonadism
27天前
已完结
A novel mutation in limb girdle muscular dystrophy
29天前
已关闭
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
1个月前
已完结
Genetic predisposition to cancer across people of different ancestries in Qatar: a population-based, cohort study
1个月前
已完结
Homozygosity by descent for a COL1A2 mutation in two sibs with severe osteogenesis imperfecta and mild clinical expression in the heterozygotes
1个月前
已完结
Molecular characterization and clinical investigation of patients with heritable thoracic aortic aneurysm and dissection
1个月前
已完结
Genetic arrhythmias complicating patients with dilated cardiomyopathy
1个月前
已完结
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