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1 . Academic Journal
Advancements in risk stratification and management strategies in primary cardiovascular prevention
저자
by
Barkas, Fotios
;
Sener, Yusuf Ziya
;
Golforoush, Pelin Arabacilar
;
Kheirkhah, Azin
;
Rodriguez-Sanchez, Elena
, et al.
소스
In
Atherosclerosis
August 2024 395
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7 . Academic Journal
Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype
저자
by
Bourbon, Mafalda
;
Rato, Quitéria
;
Alves, Ana Catarina
;
Medeiros, Ana Margarida
;
Gomes, Ana Catarina
, et al.
소스
In
Journal of Lipid Research
February 2024 65(2)
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7 . Academic Journal
Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults
저자
by
Albuquerque, João
;
Medeiros, Ana Margarida
;
Alves, Ana Catarina
;
Jannes, Cinthia Elim
;
Mancina, Rosellina M.
, et al.
소스
In
Atherosclerosis
September 2023
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7 . Academic Journal
Lysosomal acid lipase deficiency: A hidden disease among cohorts of familial hypercholesterolemia?
저자
by
Chora, Joana Rita
;
Alves, Ana Catarina
;
Medeiros, Ana Margarida
;
Mariano, Cibelle
;
Lobarinhas, Goreti
, et al.
소스
In
Journal of Clinical Lipidology
March-April 2017 11(2):477-484
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7 . Academic Journal
Genetic Characteristics of Latvian Patients with Familial Hypercholesterolemia: The First Analysis from Genome-Wide Sequencing.
저자
by
Latkovskis, Gustavs
;
Rescenko-Krums, Raimonds
;
Nesterovics, Georgijs
;
Briviba, Monta
;
Saripo, Vita
, et al.
소스
Journal of Clinical Medicine
. Aug2023, Vol. 12 Issue 15, p5160. 14p.
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7 . Academic Journal
Pharmacogenomics of statins and familial hypercholesterolemia.
저자
by
Chora, Joana Rita
;
Bourbon, Mafalda
.
소스
Current Opinion in Lipidology; Apr2021, Vol. 32 Issue 2, p96-102, 7p
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4 . Academic Journal
Systematic review of LDLR mutations associated to familial hypercholesterolaemia – evidence of functional studies and application of acmg guidelines for FH diagnosis
저자
by
Chora, Joana Rita
;
Alves, Ana Catarina
;
Medeiros, Ana Margarida
;
Bourbon, Mafalda
.
소스
In
Atherosclerosis
August 2017 263:e221-e221
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6 . Academic Journal
The familial hypercholesterolaemia phenotype: Monogenic familial hypercholesterolaemia, polygenic hypercholesterolaemia and other causes.
저자
by
Mariano, Cibelle
;
Alves, Ana Catarina
;
Medeiros, Ana Margarida
;
Chora, Joana Rita
;
Antunes, Marília
, et al.
소스
Clinical Genetics
. Mar2020, Vol. 97 Issue 3, p457-466. 10p. 2 Diagrams, 1 Chart, 1 Graph.
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7 . Periodical
Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis
저자
by
Chora, Joana Rita
;
Medeiros, Ana Margarida
;
Alves, Ana Catarina
;
Bourbon, Mafalda
.
소스
Genetics in Medicine; June 2018, Vol. 20 Issue: 6 p591-598, 8p
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6 .
Personalised medicine for Familial Hypercholesterolemia – pilot study
저자
by
Chora, Joana Rita
;
Bourbon, Mafalda
.
소스
Open Access (OpenAIRE)
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