Maria do Rosário Neto dos Santos
AuthID: R-00H-H5E
31
TITLE: Evaluating Runs of Homozygosity in Exome Sequencing Data - Utility in Disease Inheritance Model Selection and Variant Filtering
AUTHORS: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLISHED: 2018, SOURCE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC) in BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES (BIOSTEC 2017), VOLUME: 881
AUTHORS: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLISHED: 2018, SOURCE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC) in BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES (BIOSTEC 2017), VOLUME: 881
32
TITLE: Ten New Cases of Hermansky-Pudlak Syndrome in the Iberian Peninsula: Identification of Novel Genetic Variants in HPS3, HPS4, HPS6 and DTNBP1 Associated with Significant Clinical Complications
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1
AUTHORS: Bastida, JM; Morais, S; Palma Barqueros, V; Benito, R; Bermejo, N; Karkucak, M; Trapero Marugan, M; Bohdan, N; Pereira, M; Marin Quilez, A; Oliveira, J; Yucel, Y; Santos, R; Padilla, J; Janusz, K; Hortal, A; Garcia, VV; Hernandez Rivas, JM; Lozano, ML; Gonzalez Porras, JR; ...More
PUBLISHED: 2018, SOURCE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, ISSUE: Supplement 1
33
TITLE: The new neuromuscular disease related with defects in the ASC-1 complex: report of a second case confirms ASCC1 involvement. OLIVEIRA et al
. Full Text
AUTHORS: Oliveira, J; Martins, M; Leite, RP; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: CLINICAL GENETICS, VOLUME: 92, ISSUE: 4
AUTHORS: Oliveira, J; Martins, M; Leite, RP; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: CLINICAL GENETICS, VOLUME: 92, ISSUE: 4
34
TITLE: Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene Full Text
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10
AUTHORS: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLISHED: 2017, SOURCE: Genes, VOLUME: 8, ISSUE: 10
35
TITLE: Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases
AUTHORS: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLISHED: 2017, SOURCE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies in PROCEEDINGS OF THE 10TH INTERNATIONAL JOINT CONFERENCE ON BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES, VOL 3: BIOINFORMATICS, VOLUME: 3
AUTHORS: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLISHED: 2017, SOURCE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies in PROCEEDINGS OF THE 10TH INTERNATIONAL JOINT CONFERENCE ON BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES, VOL 3: BIOINFORMATICS, VOLUME: 3
36
TITLE: Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene Full Text
AUTHORS: Ana Goncalves ; Jorge Oliveira; Teresa Coelho; Ricardo Taipa; Manuel Melo Pires; Mario Sousa; Rosario Santos;
PUBLISHED: 2017, SOURCE: GENES, VOLUME: 8, ISSUE: 10
AUTHORS: Ana Goncalves ; Jorge Oliveira; Teresa Coelho; Ricardo Taipa; Manuel Melo Pires; Mario Sousa; Rosario Santos;
PUBLISHED: 2017, SOURCE: GENES, VOLUME: 8, ISSUE: 10
INDEXED IN: 
WOS
WOS IN MY: 
ORCID
ORCID37
TITLE: Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
AUTHORS: Koeks, Z; Bladen, CL; Salgado, D; Van Zwet, E; Pogoryelova, O; McMacken, G; Monges, S; Foncuberta, ME; Kekou, K; Kosma, K; Dawkins, H; Lamont, L; Bellgard, MI; Roy, AJ; Chamova, T; Guergueltcheva, V; Chan, S; Korngut, L; Campbell, C; Dai, Y; ...More
PUBLISHED: 2017, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 4, ISSUE: 4
AUTHORS: Koeks, Z; Bladen, CL; Salgado, D; Van Zwet, E; Pogoryelova, O; McMacken, G; Monges, S; Foncuberta, ME; Kekou, K; Kosma, K; Dawkins, H; Lamont, L; Bellgard, MI; Roy, AJ; Chamova, T; Guergueltcheva, V; Chan, S; Korngut, L; Campbell, C; Dai, Y; ...More
PUBLISHED: 2017, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 4, ISSUE: 4
38
TITLE: RYR1-Related Myopathies: Clinical, Histopathologic and Genetic Heterogeneity among 17 Patients from a Portuguese Tertiary Centre
AUTHORS: Raquel Samões; Jorge Oliveira; Ricardo Taipa; Teresa Coelho; Márcio Cardoso; Ana Gonçalves; Rosário Santos; Manuel Melo Pires; Manuela Santos;
PUBLISHED: 2017, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 4, ISSUE: 1
AUTHORS: Raquel Samões; Jorge Oliveira; Ricardo Taipa; Teresa Coelho; Márcio Cardoso; Ana Gonçalves; Rosário Santos; Manuel Melo Pires; Manuela Santos;
PUBLISHED: 2017, SOURCE: Journal of Neuromuscular Diseases, VOLUME: 4, ISSUE: 1
39
TITLE: New massive parallel sequencing approach improves the genetic characterization of congenital myopathies
AUTHORS: Jorge Oliveira; Ana Goncalves ; Ricardo Taipa; Manuel Melo Pires; Marcia E Oliveira; Jose Luis Costa; Jose Carlos Machado ; Elmira Medeiros; Teresa Coelho; Manuela Santos; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 6
AUTHORS: Jorge Oliveira; Ana Goncalves ; Ricardo Taipa; Manuel Melo Pires; Marcia E Oliveira; Jose Luis Costa; Jose Carlos Machado ; Elmira Medeiros; Teresa Coelho; Manuela Santos; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 61, ISSUE: 6
40
TITLE: Phenotypic and genotypic characterization of MYH9 related macrothrombocytopenias in four Portuguese families Full Text
AUTHORS: Patricia Seabra; Catarina Lau; Ines Freitas; Jorge Oliveira; Rosario Santos; Eugenia Cruz; Maria Coutinho; Fernanda Leite; Manuel Campos; Sara Morais;
PUBLISHED: 2016, SOURCE: HAEMOPHILIA, VOLUME: 22
AUTHORS: Patricia Seabra; Catarina Lau; Ines Freitas; Jorge Oliveira; Rosario Santos; Eugenia Cruz; Maria Coutinho; Fernanda Leite; Manuel Campos; Sara Morais;
PUBLISHED: 2016, SOURCE: HAEMOPHILIA, VOLUME: 22
INDEXED IN: WOS
WOS IN MY: ORCID
ORCID