Lv2
170 积分 2024-05-14 加入
Clinical application of medical exome sequencing for prenatal diagnosis of fetal structural anomalies
1个月前
已完结
Identification of a novel intergenic EPCAM-MSH2 deletion causing EPCAM-associated Lynch syndrome by long-read nanopore sequencing
1个月前
已关闭
Contribution of intragenic deletions to mutation spectrum in Chinese patients with Wilson's disease and possible mechanism underlying ATP7B gross deletions
1个月前
已完结
Other Syndromes with Prominent Ectodermal Dysplasia Signs
3个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
3个月前
已完结
Molecular genetic testing for autosomal dominant hypercholesterolemia in 29,449 Norwegian index patients and 14,230 relatives during the years 1993–2020
3个月前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
3个月前
已完结
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy
3个月前
已关闭
Cardiac CT angiography in the emergency room: Apical hypertrophic cardiomyopathy presenting as acute coronary syndrome
3个月前
已完结
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing
3个月前
已完结
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