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60 积分 2024-10-16 加入
Family trio-based sequencing in 404 sporadic bilateral hearing loss patients discovers recessive and De novo genetic variants in multiple ways
23小时前
待确认
[Clinical and genetic characteristics of a patient with dyskeratosis congenita]
6天前
已完结
Hereditary Diffuse Gastric Cancer Syndrome: CDH1 Mutations and Beyond
9天前
已关闭
Causative Variants for Inherited Cardiac Conditions in a Southeast Asian Population Cohort
13天前
已完结
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
13天前
已完结
Experience of reassessing FBN1 variants of uncertain significance by gene-specific guidelines
13天前
已完结
99 Chinese ASS1 carriers: Genetics, metabolism, and citrulline levels
20天前
已关闭
First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC)
1个月前
已完结
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