Associated Papers
Genotype-phenotype correlation in a large cohort of pediatric patients with heterozygous and homozygous familial hypercholesterolemia.
Reijman MD et al.
Current Opinion in Lipidology, 2023
36752612 (PubMed )
Supplement: colip-34-287-s001.xlsx › Suppl_Table_1_-_variants__HeFH_
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Di Taranto MD et al.
Clinical Genetics, 2021
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.
Di Taranto MD et al.
Clinical Chemistry and Laboratory Medicine, 2019
Single, short in-del, and copy number variations detection in monogenic dyslipidemia using a next-generation sequencing strategy.
Marmontel O et al.
Clinical Genetics, 2018
Select a paper to view details