GIC no congresso da Sociedade Portuguesa de Genética Humana


November 16, 2022

GIC at the Portuguese Society of Human Genetics Congress

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O Grupo de Investigação Cardiovascular esteve presente no 26º Congresso da Sociedade Portuguesa de Genética Humana em Coimbra nos dias 16-18 Novembro, onde apresentaram 5 posters científicos:

- Ana Medeiros: "LDL-C genetic risk scores in Familial Hypercholesterolemia phenotype"
- Joana Chora: "First year of LDLR variant classification from the ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel"
- Beatriz Miranda: "Next Generation Sequencing – a key tool for diagnosis and investigation of Familial Dyslipidemias"
- Maria Ferreira: "Functional characterization of APOB variants from Familial Hypercholesterolemia cases"
- Margarida Vaz: "Molecular study of MODY: latest results from 2011 to 2022"

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The Cardiovascular Research Group attended the 26th Portuguese Society of Human Genetics Congress in Coimbra, Portugal on November 16-18, where they presented 5 scientific posters:

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Ana Medeiros: "LDL-C genetic risk scores in Familial Hypercholesterolemia phenotype"
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Joana Chora: "First year of LDLR variant classification from the ClinGen Familial Hypercholesterolemia Variant Curation Expert Panel"
-
Beatriz Miranda: "Next Generation Sequencing – a key tool for diagnosis and investigation of Familial Dyslipidemias"
-
Maria Ferreira: "Functional characterization of APOB variants from Familial Hypercholesterolemia cases"
- Margarida Vaz: "Molecular study of MODY: latest results from 2011 to 2022"