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TITLE: High-Throughput Microscopy Characterization of Rare LDLR Variants
AUTHORS: Graca, Rafael; Zimon, Magdalena; Alves, Ana C.; Pepperkok, Rainer; Bourbon, Mafalda;
PUBLISHED: 2023, SOURCE: JACC-BASIC TO TRANSLATIONAL SCIENCE, VOLUME: 8, ISSUE: 8
INDEXED IN: WOS
3
TITLE: Generation and validation of a classification model to diagnose familial hypercholesterolaemia in adults  Full Text
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Jannes, Cinthia Elim; Mancina, Rosellina M.; Pavanello, Chiara; Chora, Joana Rita; Mombelli, Giuliana; Calabresi, Laura; Pereira, Alexandre da Costa; Krieger, Jose Eduardo; Romeo, Stefano; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2023, SOURCE: ATHEROSCLEROSIS, VOLUME: 383
INDEXED IN: Scopus WOS
4
TITLE: Functional characterization of variants in the 5UTR and promoter of PCK9 gene
AUTHORS: Alves, Ana Catarina; Menezes, Juliane; Fernandes, Rafael; Romao, Luisa; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 30, ISSUE: SUPPL 1
INDEXED IN: WOS
5
TITLE: Functional profiling of LDLR variants: Important evidence for variant classification  Full Text
AUTHORS: Graca, Rafael; Alves, Ana Catarina; Zimon, Magdalena; Pepperkok, Rainer; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: JOURNAL OF CLINICAL LIPIDOLOGY, VOLUME: 16, ISSUE: 4
INDEXED IN: WOS
6
TITLE: LDLR variants functional characterization: Contribution to variant classification  Full Text
AUTHORS: Alves, AC; Azevedo, S; Benito Vicente, A; Graca, R; Galicia Garcia, U; Barros, P; Jordan, P; Martin, C; Bourbon, M;
PUBLISHED: 2021, SOURCE: ATHEROSCLEROSIS, VOLUME: 329
INDEXED IN: Scopus WOS
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TITLE: Characterization of Two Variants at Met 1 of the Human LDLR Gene Encoding the Same Amino Acid but Causing Different Functional Phenotypes
AUTHORS: Graca, R; Fernandes, R; Alves, AC; Menezes, J; Romao, L; Bourbon, M;
PUBLISHED: 2021, SOURCE: BIOMEDICINES, VOLUME: 9, ISSUE: 9
INDEXED IN: WOS
8
TITLE: Applicability of Martin-Hopkins formula and comparison with Friedewald formula for estimated low-density lipoprotein cholesterol in e_COR study population
AUTHORS: Ferrinho, C; Alves, AC; Bourbon, M; Duarte, S;
PUBLISHED: 2021, SOURCE: REVISTA PORTUGUESA DE CARDIOLOGIA, VOLUME: 40, ISSUE: 10
INDEXED IN: WOS
10
TITLE: What Is the Role of the New Index Relative Fat Mass (RFM) in the Assessment of Nonalcoholic Fatty Liver Disease (NAFLD)?  Full Text
AUTHORS: Mariana V Machado; Sara Policarpo; Coutinho, J; Sofia Carvalhana; Jorge Leitao; Armando Carvalho; Ana P Silva; Francisco Velasco; Isabel Medeiros; Ana Catarina Alves; Mafalda Bourbon; Helena Cortez Pinto;
PUBLISHED: 2020, SOURCE: OBESITY SURGERY, VOLUME: 30, ISSUE: 2
INDEXED IN: Scopus WOS
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