Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
61
TITLE: Gathering and managing genotype and phenotype information about rare diseases patients
AUTHORS: Mendonca, R; Lopes, P ; Rocha, H; Oliveira, J; Vilarinho, L; Santos, R; Oliveira, JL ;
PUBLISHED: 2012, SOURCE: HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics in HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics
AUTHORS: Mendonca, R; Lopes, P ; Rocha, H; Oliveira, J; Vilarinho, L; Santos, R; Oliveira, JL ;
PUBLISHED: 2012, SOURCE: HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics in HEALTHINF 2012 - Proceedings of the International Conference on Health Informatics
INDEXED IN: 
Scopus 
DBLP
Scopus DBLP IN MY: 
ORCID
ORCID62
TITLE: O papel da Neuropatologia no diagnóstico das distrofias musculares congénitas e sua relação com o estudo genético
AUTHORS: Ivânia Alves; Ricardo Taipa; Cecília Monteiro; Manuel Melo Pires; Rosário Santos; Ana R Gonçalves; Jorge Oliveira; António Guimarães;
PUBLISHED: 2012, SOURCE: Reunião da Primavera da SPDNM, 17-18 Março 2012
AUTHORS: Ivânia Alves; Ricardo Taipa; Cecília Monteiro; Manuel Melo Pires; Rosário Santos; Ana R Gonçalves; Jorge Oliveira; António Guimarães;
PUBLISHED: 2012, SOURCE: Reunião da Primavera da SPDNM, 17-18 Março 2012
INDEXED IN: 
Handle
Handle63
TITLE: A Rare Disease Patient Manager
AUTHORS: Pedro Lopes; Rafael Mendonça; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosário Santos; José Oliveira;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology & Bioinformatics (PACBB), 28-30 March 2012
AUTHORS: Pedro Lopes; Rafael Mendonça; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosário Santos; José Oliveira;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology & Bioinformatics (PACBB), 28-30 March 2012
INDEXED IN: Handle
Handle64
TITLE: Dystrophie musculaire congénitale de type 1A – une série pédiatrique
AUTHORS: Candida Cancelinha; Carmen Cost; Jorge Oliveira; Isabel Fineza;
PUBLISHED: 2012, SOURCE: 10èmes Journées Annuelles de la Société Française de Myologie & Colloque Myogenèse, 14-16 novembre 2012
AUTHORS: Candida Cancelinha; Carmen Cost; Jorge Oliveira; Isabel Fineza;
PUBLISHED: 2012, SOURCE: 10èmes Journées Annuelles de la Société Française de Myologie & Colloque Myogenèse, 14-16 novembre 2012
INDEXED IN: Handle
Handle65
TITLE: Further contributions towards the molecular analysis of NIPBL and SMC1A genes in a cohort of patients with Cornelia de Lange Syndrome
AUTHORS: Eurico Pinto da Costa; Jorge Oliveira; João Silva; Rosário Santos;
PUBLISHED: 2012, SOURCE: European Human Genetics Conference, 23-26 June 2012
AUTHORS: Eurico Pinto da Costa; Jorge Oliveira; João Silva; Rosário Santos;
PUBLISHED: 2012, SOURCE: European Human Genetics Conference, 23-26 June 2012
INDEXED IN: Handle
Handle66
TITLE: Lamina A/C- Um Gene Várias Doenças
AUTHORS: Tiago dos Santos; Teresa Moreno; Isabel Conceição; Jorge Oliveira; Teresinha Evangelista;
PUBLISHED: 2012, SOURCE: Reunião da Primavera da SPDNM, 17-18 Março 2012
AUTHORS: Tiago dos Santos; Teresa Moreno; Isabel Conceição; Jorge Oliveira; Teresinha Evangelista;
PUBLISHED: 2012, SOURCE: Reunião da Primavera da SPDNM, 17-18 Março 2012
INDEXED IN: Handle
Handle67
TITLE: DOMINANT AND RECESSIVE RYR1 MUTATIONS IN ADULTS WITH CORE LESIONS AND MILD MUSCLE SYMPTOMS Full Text
AUTHORS: Sofia T Duarte; Jorge Oliveira; Rosrio Santos; Pedro Pereira; Candida Barroso; Isabel Conceicao; Teresinha Evangelista;
PUBLISHED: 2011, SOURCE: MUSCLE & NERVE, VOLUME: 44, ISSUE: 1
AUTHORS: Sofia T Duarte; Jorge Oliveira; Rosrio Santos; Pedro Pereira; Candida Barroso; Isabel Conceicao; Teresinha Evangelista;
PUBLISHED: 2011, SOURCE: MUSCLE & NERVE, VOLUME: 44, ISSUE: 1
68
TITLE: Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America Full Text
AUTHORS: Luis Vernengo; Jorge Oliveira; Martin Krahn; Emilia Vieira; Rosario Santos; Luisa Carrasco; Luis Negrao; Ana Panuncio; France Leturcq; Veronique Labelle; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rosario Mesa; Carlos Pizzarossa; Nicolas Levy; Maria Mirta Rodriguez;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 5
AUTHORS: Luis Vernengo; Jorge Oliveira; Martin Krahn; Emilia Vieira; Rosario Santos; Luisa Carrasco; Luis Negrao; Ana Panuncio; France Leturcq; Veronique Labelle; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rosario Mesa; Carlos Pizzarossa; Nicolas Levy; Maria Mirta Rodriguez;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 5
69
TITLE: New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
AUTHORS: Miguel Goncalves Rocha; Jorge Oliveira; Luisa Rodrigues; Rosario Santos;
PUBLISHED: 2011, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 15, ISSUE: 5
AUTHORS: Miguel Goncalves Rocha; Jorge Oliveira; Luisa Rodrigues; Rosario Santos;
PUBLISHED: 2011, SOURCE: GENETIC TESTING AND MOLECULAR BIOMARKERS, VOLUME: 15, ISSUE: 5
INDEXED IN: Scopus 
WOS
Scopus WOS IN MY: ORCID
ORCID70
TITLE: New Approaches in Molecular Diagnosis and Population Carrier Screening for Spinal Muscular Atrophy
AUTHORS: Miguel Gonçalves-Rocha; Jorge Oliveira; Luísa Rodrigues; Rosário Santos;
PUBLISHED: 2011, SOURCE: Genetic Testing and Molecular Biomarkers, VOLUME: 15, ISSUE: 5
AUTHORS: Miguel Gonçalves-Rocha; Jorge Oliveira; Luísa Rodrigues; Rosário Santos;
PUBLISHED: 2011, SOURCE: Genetic Testing and Molecular Biomarkers, VOLUME: 15, ISSUE: 5
