Lv11
30 积分 2024-12-19 加入
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants
4小时前
已完结
Clinical and ECG variables to predict the outcome of genetic testing in hypertrophic cardiomyopathy
7天前
已完结
Differential contributions of sarcomere and mitochondria-related multigene variants to the endophenotype of hypertrophic cardiomyopathy
7天前
已完结
Clinical exome sequencing unravels the diverse spectrum of genetic heterogeneity and genotype-phenotype correlations in hypertrophic cardiomyopathy
8天前
已完结
Clinical and genetic features of IL12Rb1 deficiency: Single center experience of 18 patients
9天前
已关闭
A stepwise haematological screening and whole‐exome sequencing reveal multiple mutations from SUPT5H causing an elevation of Hb A2 from a cohort of 47336 individuals
12天前
已完结
Phenotypic and genotypic characterization of familial hypercholesterolemia in French adult and pediatric populations
12天前
已完结
Lipoprotein(a) in hereditary hypercholesterolemia: Influence of the genetic cause, defective gene and type of mutation
12天前
已完结
LDLR variants functional characterization: Contribution to variant classification
13天前
已完结
Functional profiling of LDLR variants: Important evidence for variant classification
14天前
已完结
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