publicaciones seleccionadas artículo académico Application of a Pilot Screening Program for Familial Hypercholesterolemia in a High-Complexity Hospital Center. REVISTA MEDICA DE CHILE. 153(5):352-361. 2025 Phenotypic and molecular characterization of the exon 13-15 duplication in LDLR: Implications for familial hypercholesterolemia. JOURNAL OF CLINICAL LIPIDOLOGY. 1-11. 2025 Identification of genetic variants associated with familial hypercholesterolemia in Chilean children and adolescents. REVISTA MEDICA DE CHILE. 149(9):1267-1274. 2021 Phenotypic characterization and predictive analysis of p.Asp47Asn LDL receptor mutation associated with Familial Hypercholesterolemia in a Chilean population. JOURNAL OF CLINICAL LIPIDOLOGY. 15(2):366-374. 2021 Dyslipidemia in children and adolescents with a family history of early cardiovascular disease. REVISTA CHILENA DE ENDOCRINOLOGIA Y DIABETES. 10(4):137-141. 2017 Control of Ethanol sensitivity of the Glycene receptor a3 Subunit by Transmembrane 2, the Intracellular Splice Cassette and C-Terminal Domain. JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS. 353:80-90. 2015 Effects of ethanol on glycinergic synaptic currents in mouse spinal cord neurons. JOURNAL OF NEUROPHYSIOLOGY. 111(10):1940-1948. 2014 The Protease Degrading Sperm Histones Post-Fertilization in Sea Urchin Eggs Is a Nuclear Cathepsin L That Is Further Required for Embryo Development. PLOS ONE. 7(11):46850-46860. 2012