Lv2
110 积分 2024-08-27 加入
Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases
7天前
已完结
Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients
11天前
已完结
Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences
12天前
已关闭
Lower Incidence of Colorectal Cancer and Later Age of Disease Onset in 27 Families With Pathogenic MSH6 Germline Mutations Compared With Families With MLH1 or MSH2 Mutations: The German Hereditary Nonpolyposis Colorectal Cancer Consortium
20天前
已完结
Genetic architecture of thoracic aortic dissection in the female population
1个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2个月前
已完结
Clinical, biochemical characteristics and genotype-phenotype analysis of congenital hypothyroidism diagnosed by newborn screening in China
2个月前
已完结
Variants in the Wnt co-receptor LRP6 are associated with familial exudative vitreoretinopathy
2个月前
已完结
Neurodevelopmental delay, musculoskeletal disorders and dysmorphia associated with a novel pathogenic interstitial deletion of chromosome 10q21.1q21.3
2个月前
已完结
Whole exome sequencing of 491 individuals with inherited retinal diseases reveals a large spectrum of variants and identification of novel candidate genes
2个月前
已完结
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