Lv5
810 积分 2022-03-31 加入
Spectrum of renal involvement among children with ectodermal dysplasia: a case report and narrative review
1天前
已关闭
Novel human pathological mutations. Gene symbol: NOTCH3. Disease: CADASIL
4天前
求助中
A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients
10天前
已完结
Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy
15天前
已完结
Implications of Genetic Testing in Dilated Cardiomyopathy
15天前
已关闭
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
24天前
已完结
[A pedigree with hypertrophic cardiomyopathy caused by a thyroxine translocator c.128G>A mutation]
1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
1个月前
已关闭
Exploring the Familial Phenotypic Variability Associated With TTN Truncating Variants in Cardiomyopathies: Variant Spectrum, Genotype–Phenotype Correlation and Consequences in Genetic Counseling
1个月前
已完结
[Analysis of hematological phenotype and genotype of 23 patients from Guangdong with co-inherited hemoglobin Hb Westmead and β-thalassemia]
1个月前
已完结
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