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TITLE: The Human Gene Mutation Database (HGMD(R)): optimizing its use in a clinical diagnostic or research setting  Full Text
AUTHORS: Stenson, PD; Mort, M; Ball, EV; Chapman, M; Evans, K; Azevedo, L ; Hayden, M; Heywood, S; Millar, DS; Phillips, AD; Cooper, DN;
PUBLISHED: 2020, SOURCE: HUMAN GENETICS, VOLUME: 139, ISSUE: 10
INDEXED IN: Scopus WOS CrossRef: 320
IN MY: ORCID
14
TITLE: Bohler Angle and the Crucial Angle of Gissane in Paediatric Population  Full Text
AUTHORS: Bruno Pombo; Ana Cristina Ferreira; Luis Costa ;
PUBLISHED: 2019, SOURCE: CLINICAL MEDICINE INSIGHTS-ARTHRITIS AND MUSCULOSKELETAL DISORDERS, VOLUME: 12
INDEXED IN: Scopus WOS
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TITLE: GIT and Augmented Reality as tools for promotion and development of spatial thinking
AUTHORS: Azevedo, L ; Osorio, A ; Ribeiro, V;
PUBLISHED: 2019, SOURCE: 14th Iberian Conference on Information Systems and Technologies (CISTI) in 2019 14TH IBERIAN CONFERENCE ON INFORMATION SYSTEMS AND TECHNOLOGIES (CISTI), VOLUME: 2019-June
INDEXED IN: Scopus WOS
19
TITLE: The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and Their Role in Human Tumorigenesis  Full Text
AUTHORS: Giulia Cazzanelli; Flavia Pereira; Sara Alves; Rita Francisco; Luisa Azevedo ; Patricia Dias Carvalho; Ana Almeida; Manuela Corte Real; Maria Jose Oliveira ; Candida Lucas; Maria Joao Sousa; Ana Preto;
PUBLISHED: 2018, SOURCE: CELLS, VOLUME: 7, ISSUE: 2
INDEXED IN: WOS CrossRef: 31
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TITLE: Improving the in silico assessment of pathogenicity for compensated variants
AUTHORS: Luisa Azevedo ; Matthew Mort; Antonio C Costa; Raquel M Silva; Dulce Quelhas; Amorim, Antonio ; David N Cooper;
PUBLISHED: 2017, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 25, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 19
IN MY: ORCID
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