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Current Opinion in Lipidology|November 9, 2021
Polygenic contribution for familial hypercholesterolemia (FH)Ana Margarida Medeiros, Mafalda Bourbon
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2015
Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvementAna Margarida Medeiros, Ana Catarina Alves, Mafalda Bourbon
Journal of Lipid Research|March 15, 2014
Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemiaAna Margarida Medeiros, Ana Catarina Alves, Pedro Aguiar, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 21, 2017
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosisJoana Rita Chora, Ana Margarida Medeiros, Ana Catarina Alves, et al.
Plos One|June 24, 2022
Comparative study on the performance of different classification algorithms, combined with pre- and post-processing techniques to handle imbalanced data, in the diagnosis of adult patients with familial hypercholesterolemiaJoão Albuquerque, Ana Margarida Medeiros, Ana Catarina Alves, et al.
Scientific Reports|January 22, 2022
Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjectsJoão Albuquerque, Ana Margarida Medeiros, Ana Catarina Alves, et al.
Journal of Lipid Research|December 20, 2023
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotypeAna Margarida Medeiros, Ana Catarina Alves, Beatriz Miranda, et al.
Atherosclerosis|October 2, 2018
Further evidence of novel APOB mutations as a cause of familial hypercholesterolaemiaAna Catarina Alves, Asier Benito-Vicente, Ana Margarida Medeiros, et al.
Revista Portuguesa De Cardiologia : Orgao Oficial Da Sociedade Portuguesa De Cardiologia = Portuguese Journal of Cardiology : an Official Journal of the Portuguese Society of Cardiology|May 15, 2013
Hypercholesterolemia--a disease with expression from childhoodMaria do Céu Espinheira, Carla Vasconcelos, Ana Margarida Medeiros, et al.
Clinical Genetics|January 2, 2020
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causesCibelle Mariano, Ana Catarina Alves, Ana Margarida Medeiros, et al.
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