Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
61
TITLE: The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia Full Text
AUTHORS: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angelica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barisic; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery Giraud; Mireille Claustres; France Leturcq; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
AUTHORS: Catherine L Bladen; Karen Rafferty; Volker Straub; Soledad Monges; Angelica Moresco; Hugh Dawkins; Anna Roy; Teodora Chamova; Velina Guergueltcheva; Lawrence Korngut; Craig Campbell; Yi Dai; Nina Barisic; Tea Kos; Petr Brabec; Jes Rahbek; Jaana Lahdetie; Sylvie Tuffery Giraud; Mireille Claustres; France Leturcq; ...More
PUBLISHED: 2013, SOURCE: HUMAN MUTATION, VOLUME: 34, ISSUE: 11
62
TITLE: A Portuguese case of Fukuyama congenital muscular dystrophy caused by a multi-exonic duplication in the fukutin gene Full Text
AUTHORS: Costa, C; Oliveira, J; Goncalves, A; Santos, R; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rebelo, O; Pais, RP; Fineza, I;
PUBLISHED: 2013, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 23, ISSUE: 7
AUTHORS: Costa, C; Oliveira, J; Goncalves, A; Santos, R; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Rebelo, O; Pais, RP; Fineza, I;
PUBLISHED: 2013, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 23, ISSUE: 7
63
TITLE: Base de dados internacional de variantes genéticas do gene MTM1: contributos para o perfil epidemiológico da miopatia miotubular
AUTHORS: Jorge Oliveira; Rosário Oliveira; Márcia Santos;
PUBLISHED: 2013, VOLUME: 2(3)
AUTHORS: Jorge Oliveira; Rosário Oliveira; Márcia Santos;
PUBLISHED: 2013, VOLUME: 2(3)
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Handle64
TITLE: A Rare Disease Patient Manager
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
65
TITLE: Clinical, biochemical and molecular characterization of Cystinuria in a cohort of 12 patients Full Text
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
AUTHORS: Barbosa, M; Lopes, A; Mota, C; Martins, E ; Oliveira, J; Alves, S; De Bonis, P; Do Ceu C Mota; Dias, C; Paulo Rodrigues-Santos ; Fortuna, AM; Quelhas, D; Lacerda, L; Bisceglia, L; Cardoso, ML;
PUBLISHED: 2012, SOURCE: CLINICAL GENETICS, VOLUME: 81, ISSUE: 1
66
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
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ORCID
ORCID67
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
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Handle68
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
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Handle69
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
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Handle70
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
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