Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
71
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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Handle
Handle72
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
Handle73
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
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Handle74
TITLE: Migration of an ancestral dysferlin splicing mutation from the Iberian peninsula to South America Full Text
AUTHORS: Vernengo, L; Oliveira, J; Krahn, M; Vieira, E; Santos, R; Carrasco, L; Negrao, L; Panuncio, L; Leturcq, F; Labelle, V; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Mesa, R; Pizzarossa, C; Levy, N; Rodriguez, MM;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
AUTHORS: Vernengo, L; Oliveira, J; Krahn, M; Vieira, E; Santos, R; Carrasco, L; Negrao, L; Panuncio, L; Leturcq, F; Labelle, V; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Mesa, R; Pizzarossa, C; Levy, N; Rodriguez, MM;
PUBLISHED: 2011, SOURCE: 16th International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 9-10
75
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
76
TITLE: Novel ancestral Dysferlin splicing mutation which migrated from the Iberian peninsula to South America Full Text
AUTHORS: Vernengo, L; Oliveira, J; Krahn, M; Vieira, E; Santos, R; Carrasco, L; Negrao, L; Panuncio, A; Leturcq, F; Labelle, V; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Mesa, R; Pizzarossa, C; Levy, N; Rodriguez, MM;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 5
AUTHORS: Vernengo, L; Oliveira, J; Krahn, M; Vieira, E; Santos, R; Carrasco, L; Negrao, L; Panuncio, A; Leturcq, F; Labelle, V; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Mesa, R; Pizzarossa, C; Levy, N; Rodriguez, MM;
PUBLISHED: 2011, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 21, ISSUE: 5
77
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
ORCID78
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
79
TITLE: Atrofias Musculares Espinhais: do estudo genético ao registo de doentes
AUTHORS: Jorge Oliveira; Luisa Rodrigues; Nuno Maia; Marcia E Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 5º Congresso da Sociedade Portuguesa de Estudo de Doenças Neuromusculares, 26 Maio 2011
AUTHORS: Jorge Oliveira; Luisa Rodrigues; Nuno Maia; Marcia E Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 5º Congresso da Sociedade Portuguesa de Estudo de Doenças Neuromusculares, 26 Maio 2011
INDEXED IN: Handle
Handle80
TITLE: Anoctamin 5: A New Candidate Gene For Portuguese Patients With Adult Onset Limb-Girdle Muscular Dystrophy
AUTHORS: Rosário Santos; Emília Vieira; Ariana Moutinho; Jorge Oliveira; Luís Negrão; Elsa Bronze da Rocha;
PUBLISHED: 2011, SOURCE: 15ª Reunião Anual da SPGH, 10-12 Novembro 2011
AUTHORS: Rosário Santos; Emília Vieira; Ariana Moutinho; Jorge Oliveira; Luís Negrão; Elsa Bronze da Rocha;
PUBLISHED: 2011, SOURCE: 15ª Reunião Anual da SPGH, 10-12 Novembro 2011
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