Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
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TITLE: New variants, challenges and pitfalls in DMD genotyping: implications in diagnosis, prognosis and therapy Full Text
AUTHORS: Rosario Santos; Ana Goncalves; Jorge Oliveira; Emilia Vieira; Jose Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2014, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 8
AUTHORS: Rosario Santos; Ana Goncalves; Jorge Oliveira; Emilia Vieira; Jose Pedro Vieira; Teresinha Evangelista; Teresa Moreno; Manuela Santos; Isabel Fineza; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2014, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 59, ISSUE: 8
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TITLE: A molecular approach to sperm immotility in humans: A review
AUTHORS: Rute Pereira; Jorge Oliveira; Mário Sousa;
PUBLISHED: 2014, SOURCE: Medicina Reproductiva y Embriología Clínica, VOLUME: 1, ISSUE: 1
AUTHORS: Rute Pereira; Jorge Oliveira; Mário Sousa;
PUBLISHED: 2014, SOURCE: Medicina Reproductiva y Embriología Clínica, VOLUME: 1, ISSUE: 1
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TITLE: Expanding the MTM1 mutational spectrum: novel variants including the first multi-exonic duplication and development of a locus-specific database Full Text
AUTHORS: Jorge Oliveira; Marcia E Oliveira; Wolfram Kress; Ricardo Taipa; Manuel Melo Pires ; Pascale Hilbert; Peter Baxter; Manuela Santos; Henk Buermans; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 21, ISSUE: 5
AUTHORS: Jorge Oliveira; Marcia E Oliveira; Wolfram Kress; Ricardo Taipa; Manuel Melo Pires ; Pascale Hilbert; Peter Baxter; Manuela Santos; Henk Buermans; Johan T den Dunnen; Rosario Santos;
PUBLISHED: 2013, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 21, ISSUE: 5
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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
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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
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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
27
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
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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
ORCID29
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
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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
