22
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
23
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
25
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
26
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
27
TITLE: 3-Methylcrotonyl-CoA carboxylase deficiency: Mutational spectrum derived from comprehensive newborn screening  Full Text
AUTHORS: Fonseca, H; Azevedo, L ; Serrano, C; Sousa, C; Marcao, A; Vilarinho, L;
PUBLISHED: 2016, SOURCE: GENE, VOLUME: 594, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef: 13
IN MY: ORCID
28
TITLE: Major influence of repetitive elements on disease-associated copy number variants (CNVs)  Full Text
AUTHORS: Ana R Cardoso; Manuela Oliveira ; Amorim, Antonio ; Luisa Azevedo ;
PUBLISHED: 2016, SOURCE: HUMAN GENOMICS, VOLUME: 10, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 15
IN MY: ORCID
29
TITLE: Compensatory Evolution in Disease-Associated Genes
AUTHORS: Luisa Azevedo ;
PUBLISHED: 2015, SOURCE: eLS
INDEXED IN: CrossRef
IN MY: ORCID
Page 3 of 7. Total results: 69.