Mafalda Vieira da Rocha Peixoto e Bourbon de Sampaio Pimentel
AuthID: R-000-KH5
21
TITLE: Competition for Funding or Funding for Competition? Analysing the Dissemination of Performance-based Funding in European Higher Education and its Institutional Effects Full Text
AUTHORS: Teixeira, P ; Ricardo Biscaia ; Rocha, V;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF PUBLIC ADMINISTRATION, VOLUME: 45, ISSUE: 2
AUTHORS: Teixeira, P ; Ricardo Biscaia ; Rocha, V;
PUBLISHED: 2022, SOURCE: INTERNATIONAL JOURNAL OF PUBLIC ADMINISTRATION, VOLUME: 45, ISSUE: 2
22
TITLE: Performance comparison of different classification algorithms applied to the diagnosis of familial hypercholesterolemia in paediatric subjects
AUTHORS: Albuquerque, J; Medeiros, AM; Alves, AC; Bourbon, M; Antunes, M;
PUBLISHED: 2022, SOURCE: SCIENTIFIC REPORTS, VOLUME: 12, ISSUE: 1
AUTHORS: Albuquerque, J; Medeiros, AM; Alves, AC; Bourbon, M; Antunes, M;
PUBLISHED: 2022, SOURCE: SCIENTIFIC REPORTS, VOLUME: 12, ISSUE: 1
23
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
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
WOS24
TITLE: Functional profiling of LDLR variants: Important evidence for variant classification: Functional profiling of LDLR variants
AUTHORS: Graça, R; Alves, AC; Zimon, M; Pepperkok, R; Bourbon, M;
PUBLISHED: 2022, SOURCE: Journal of Clinical Lipidology, VOLUME: 16, ISSUE: 4
AUTHORS: Graça, R; Alves, AC; Zimon, M; Pepperkok, R; Bourbon, M;
PUBLISHED: 2022, SOURCE: Journal of Clinical Lipidology, VOLUME: 16, ISSUE: 4
25
TITLE: The Clinical Genome Resource (ClinGen) Familial Hypercholesterolemia Variant Curation Expert Panel consensus guidelines for LDLR variant classification
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
AUTHORS: Chora, Joana R.; Iacocca, Michael A.; Tichy, Lukas; Wand, Hannah; Kurtz, C. Lisa; Zimmermann, Heather; Leon, Annette; Williams, Maggie; Humphries, Steve E.; Hooper, Amanda J.; Trinder, Mark; Brunham, Liam R.; Pereira, Alexandre Costa; Jannes, Cinthia E.; Chen, Margaret; Chonis, Jessica; Wang, Jian; Kim, Serra; Johnston, Tami; Soucek, Premysl; ...More
PUBLISHED: 2022, SOURCE: GENETICS IN MEDICINE, VOLUME: 24, ISSUE: 2
26
TITLE: 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 hypercholesterolemia
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2022, SOURCE: PLOS ONE, VOLUME: 17, ISSUE: 6
AUTHORS: Albuquerque, Joao; Medeiros, Ana Margarida; Alves, Ana Catarina; Bourbon, Mafalda; Antunes, Marilia;
PUBLISHED: 2022, SOURCE: PLOS ONE, VOLUME: 17, ISSUE: 6
27
TITLE: Editorial
AUTHORS: Júlio, E; Pimentel, M;
PUBLISHED: 2022, SOURCE: Structural Concrete, VOLUME: 23, ISSUE: 3
AUTHORS: Júlio, E; Pimentel, M;
PUBLISHED: 2022, SOURCE: Structural Concrete, VOLUME: 23, ISSUE: 3
INDEXED IN: 
Scopus
Scopus28
TITLE: CLINVAR LDLR VARIANT CLASSIFICATION VS FH VCEP LDLR SPECIFICATIONS Full Text
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Chora, Joana; Tichy, Lukas; Iacocca, Michael; Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS29
TITLE: FAMILIAL HYPERCHOLESTEROLEMIA - MONOGENIC, POLYGENIC OR BOTH? Full Text
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: Medeiros, Ana Margarida; Alves, Ana Catarina; Chora, Joana Rita; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS30
TITLE: RARE DYSLIPIDAEMIAS ASSOCIATED WITH HDL CHOLESTEROL VALUES Full Text
AUTHORS: dos Santos Alves, Ana Catarina; Miranda, Beatriz; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
AUTHORS: dos Santos Alves, Ana Catarina; Miranda, Beatriz; Bourbon, Mafalda;
PUBLISHED: 2022, SOURCE: MEDICINE, VOLUME: 101, ISSUE: 30
INDEXED IN: WOS
WOS