Lv2
150 积分 2024-05-14 加入
Other Syndromes with Prominent Ectodermal Dysplasia Signs
1个月前
已完结
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
1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
1个月前
已完结
Diagnosis of familial hypercholesterolemia in a large cohort of Italian genotyped hypercholesterolemic patients
1个月前
已完结
Prevalence of rare missense TTN variants in a cohort of patients with cardiomyopathy
1个月前
已关闭
Cardiac CT angiography in the emergency room: Apical hypertrophic cardiomyopathy presenting as acute coronary syndrome
1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
1个月前
已完结
Disparities in late and lost: Pediatricians' role in following Pompe disease identified by newborn screening
3个月前
已关闭
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)
3个月前
已关闭
Fabry disease and evolving story of I198T and A143T: Variants of varying clinical consequence (VVCC)
3个月前
已关闭
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