Lv5
860 积分 2022-03-31 加入
Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation
13天前
已完结
Clinical, genetic profile and therapy evaluation of 55 children and 5 adults with sitosterolemia
1个月前
已完结
Spectrum of renal involvement among children with ectodermal dysplasia: a case report and narrative review
1个月前
已关闭
Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
1个月前
已关闭
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients
2个月前
已完结
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy
2个月前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
2个月前
已关闭
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
2个月前
已完结
[A pedigree with hypertrophic cardiomyopathy caused by a thyroxine translocator c.128G>A mutation]
2个月前
已完结
Selection of individuals for genetic testing for familial hypercholesterolaemia: development and external validation of a prediction model for the presence of a mutation causing familial hypercholesterolaemia
3个月前
已关闭
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