ProfileOfResearchers

Identificadas 116

TÃTULO: Evaluating Runs of Homozygosity in Exome Sequencing Data - Utility in Disease Inheritance Model Selection and Variant Filtering
AUTORES: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLICAÇÃO: 2018, FONTE: 10th International Joint Conference on Biomedical Engineering Systems and Technologies (BIOSTEC) in BIOMEDICAL ENGINEERING SYSTEMS AND TECHNOLOGIES (BIOSTEC 2017), VOLUME: 881

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TÃTULO: 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
AUTORES: 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; Lima, M; Rivera, J; ...Mais
PUBLICAÇÃO: 2018, FONTE: 60th Annual Meeting of the American-Society-of-Hematology (ASH) in BLOOD, VOLUME: 132, NÚMERO: Supplement 1

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TÃTULO: 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
AUTORES: Oliveira, J; Martins, M; Leite, RP; Sousa, M; Santos, R;
PUBLICAÇÃO: 2017, FONTE: CLINICAL GENETICS, VOLUME: 92, NÚMERO: 4

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TÃTULO: Exonization of an intronic LINE-1 element causing becker muscular dystrophy as a novel mutational mechanism in dystrophin gene Full Text
AUTORES: Gonçalves, A ; Oliveira, J; Coelho, T; Taipa, R; Melo Pires, M; Sousa, M; Santos, R;
PUBLICAÇÃO: 2017, FONTE: Genes, VOLUME: 8, NÚMERO: 10

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TÃTULO: Homozygosity Mapping using Whole-Exome Sequencing: A Valuable Approach for Pathogenic Variant Identification in Genetic Diseases
AUTORES: Oliveira, J; Pereira, R; Santos, R; Sousa, M ;
PUBLICAÇÃO: 2017, FONTE: 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

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TÃTULO: Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene Full Text
AUTORES: Ana Goncalves ; Jorge Oliveira; Teresa Coelho; Ricardo Taipa; Manuel Melo Pires; Mario Sousa; Rosario Santos;
PUBLICAÇÃO: 2017, FONTE: GENES, VOLUME: 8, NÚMERO: 10

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TÃTULO: Clinical Outcomes in Duchenne Muscular Dystrophy: A Study of 5345 Patients from the TREAT-NMD DMD Global Database
AUTORES: 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; Wang, J; Barišić, N; Brabec, P; Lähdetie, J; Walter, MC; Schreiber Katz, O; Karcagi, V; Garami, M; Herczegfalvi, A; Viswanathan, V; Bayat, F; Buccella, F; Ferlini, A; Kimura, E; Van Den Bergen, JC; Rodrigues, M; Roxburgh, R; Lusakowska, A; Kostera Pruszczyk, A; Santos, R; Neagu, E; Artemieva, S; Rasic, VM; Vojinovic, D; Posada, M; Bloetzer, C; Klein, A; Díaz Manera, J; Gallardo, E; Karaduman, AA; Oznur, T; Topalolu, H; El Sherif, R; Stringer, A; Shatillo, AV; Martin, AS; Peay, HL; Kirschner, J; Flanigan, KM; Straub, V; Bushby, K; Béroud, C; Verschuuren, JJ; Lochmüller, H; ...Mais
PUBLICAÇÃO: 2017, FONTE: Journal of Neuromuscular Diseases, VOLUME: 4, NÚMERO: 4

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