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List of works by A M Medeiros

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis

scientific article published on 26 October 2017

Cardiovascular risk assessment of dyslipidemic children: analysis of biomarkers to identify monogenic dyslipidemia.

scientific article published on 13 March 2014

Cardiovascular risk profile of high school students: a cross-sectional study.

scientific article published on 12 September 2014

Characterization of the First PCSK9 Gain of Function Homozygote

scientific article published in November 2015

Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.

scientific article published on 23 November 2016

Familial hypercholesterolemia: Molecular characterization of possible cases from the Azores Islands (Portugal).

scientific article

Frecuencia, aspectos clínicos y moleculares de la hipercolesterolemia familiar en una unidad de endocrinología de Ciudad Bolívar, Venezuela

scientific article published on 04 July 2017

Genetic diagnosis of familial hypercholesterolaemia: the importance of functional analysis of potential splice-site mutations.

scientific article published in May 2009

Hypercholesterolemia--a disease with expression from childhood.

scientific article published on 11 May 2013

Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?

scientific article published on 17 November 2016

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

scientific article

Preliminary spectrum of genetic variants in familial hypercholesterolemia in Argentina.

scientific article published on 28 February 2017

The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes

scientific article published on 01 March 2020

The importance of an integrated analysis of clinical, molecular, and functional data for the genetic diagnosis of familial hypercholesterolemia.

scientific article published on 5 March 2015

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