21
TITLE: SLC35A2-CDG: Novel variant and review
AUTHORS: Quelhas, D ; Correia, J; Jaeken, J; Azevedo, L ; Lopes Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, E ;
PUBLISHED: 2021, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 26
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
23
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
24
TITLE: Bohler Angle and the Crucial Angle of Gissane in Paediatric Population  Full Text
AUTHORS: Pombo, B; Ferreira, AC; Costa, L ;
PUBLISHED: 2019, SOURCE: CLINICAL MEDICINE INSIGHTS-ARTHRITIS AND MUSCULOSKELETAL DISORDERS, VOLUME: 12
INDEXED IN: Scopus WOS CrossRef: 2
27
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 CrossRef: 1
28
TITLE: RFT1-CDG: Absence of epilepsy and deafness in two patients with novel pathogenic variants
AUTHORS: Quelhas, D; Jaeken, J; Fortuna, A; Azevedo, L ; Bandeira, A; Matthijs, G; Martins, E ;
PUBLISHED: 2019, SOURCE: JIMD Reports, VOLUME: 43
INDEXED IN: Scopus CrossRef: 2
IN MY: ORCID
30
TITLE: The Yeast Saccharomyces cerevisiae as a Model for Understanding RAS Proteins and Their Role in Human Tumorigenesis
AUTHORS: Cazzanelli, G; Pereira, F; Alves, S; Francisco, R; Azevedo, L ; Carvalho, PD; Almeida, A; Corte Real, M; Oliveira, MJ ; Lucas, C; Sousa, MJ; Preto, A;
PUBLISHED: 2018, SOURCE: CELLS, VOLUME: 7, ISSUE: 2
INDEXED IN: WOS CrossRef: 31 Handle
IN MY: ORCID
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