Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
51
TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
52
TITLE: Variobox: Automatic Detection and Annotation of Human Genetic Variants Full Text
AUTHORS: Paulo Gaspar ; Pedro Lopes; Jorge Oliveira; Rosario Santos; Raymond Dalgleish; Jose Luis Oliveira ;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 2
AUTHORS: Paulo Gaspar ; Pedro Lopes; Jorge Oliveira; Rosario Santos; Raymond Dalgleish; Jose Luis Oliveira ;
PUBLISHED: 2014, SOURCE: HUMAN MUTATION, VOLUME: 35, ISSUE: 2
53
TITLE: Atypical phenotype in two patients with LAMA2 mutations Full Text
AUTHORS: Joana Marques; Sofia T Duarte; Sonia Costa; Sandra Jacinto; Jorge Oliveira; Marcia E Oliveira; Rosario Santos; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Ana Rita Silvestre; Eulalia Calado; Teresinha Evangelista;
PUBLISHED: 2014, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 24, ISSUE: 5
AUTHORS: Joana Marques; Sofia T Duarte; Sonia Costa; Sandra Jacinto; Jorge Oliveira; Marcia E Oliveira; Rosario Santos; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Ana Rita Silvestre; Eulalia Calado; Teresinha Evangelista;
PUBLISHED: 2014, SOURCE: NEUROMUSCULAR DISORDERS, VOLUME: 24, ISSUE: 5
54
TITLE: Ryanodine Myopathies Without Central Cores-Clinical, Histopathologic, and Genetic Description of Three Cases Full Text
AUTHORS: Joao Rocha; Ricardo Taipa; Manuel Melo Pires; Jorge Oliveira; Rosario Santos; Manuela Santos;
PUBLISHED: 2014, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 51, ISSUE: 2
AUTHORS: Joao Rocha; Ricardo Taipa; Manuel Melo Pires; Jorge Oliveira; Rosario Santos; Manuela Santos;
PUBLISHED: 2014, SOURCE: PEDIATRIC NEUROLOGY, VOLUME: 51, ISSUE: 2
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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: Reviewing large LAMA2 deletions and duplications in congenital muscular dystrophy patients
AUTHORS: Oliveira, J; Gonçalves, A; Oliveira, ME; Fineza, I; Pavanello, RCM; Vainzof, M; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Santos, R; Sousa, M;
PUBLISHED: 2014, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 1, ISSUE: 2
AUTHORS: Oliveira, J; Gonçalves, A; Oliveira, ME; Fineza, I; Pavanello, RCM; Vainzof, M; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ; Santos, R; Sousa, M;
PUBLISHED: 2014, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 1, ISSUE: 2
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TITLE: A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
AUTHORS: Paula Jorge; Maria Mota-Freitas; Rosário Santos; Maria Silva; Gabriela Soares; Ana Fortuna;
PUBLISHED: 2014, SOURCE: Journal of Clinical Medicine, VOLUME: 3, ISSUE: 3
AUTHORS: Paula Jorge; Maria Mota-Freitas; Rosário Santos; Maria Silva; Gabriela Soares; Ana Fortuna;
PUBLISHED: 2014, SOURCE: Journal of Clinical Medicine, VOLUME: 3, ISSUE: 3
58
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: Development and validation of a multiplex-PCR assay for X-linked intellectual disability Full Text
AUTHORS: Paula Jorge ; Barbara Oliveira; Isabel Marques; Rosario Santos;
PUBLISHED: 2013, SOURCE: BMC MEDICAL GENETICS, VOLUME: 14, ISSUE: 1
AUTHORS: Paula Jorge ; Barbara Oliveira; Isabel Marques; Rosario Santos;
PUBLISHED: 2013, SOURCE: BMC MEDICAL GENETICS, VOLUME: 14, ISSUE: 1
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TITLE: Bilirubin Levels and Redox Status in a Young Healthy Population
AUTHORS: Carina Rodrigues; Susana Rocha ; Henrique Nascimento; Emilia Vieira; Rosario Santos; Alice Santos-Silva ; Elisio Costa ; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2013, SOURCE: ACTA HAEMATOLOGICA, VOLUME: 130, ISSUE: 1
AUTHORS: Carina Rodrigues; Susana Rocha ; Henrique Nascimento; Emilia Vieira; Rosario Santos; Alice Santos-Silva ; Elisio Costa ; Bronze-da-Rocha E; Bronze E; Bronze-Rocha E ;
PUBLISHED: 2013, SOURCE: ACTA HAEMATOLOGICA, VOLUME: 130, ISSUE: 1
