21
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
INDEXED IN: Scopus CrossRef
IN MY: ORCID
22
TITLE: The ever-growing understanding of transthyretin amyloidosis nephropathy
AUTHORS: Moreira, CL; Rocha, A; Santos, J ; Santos, M; Beirão, I ; Coelho, T; Lobato, L;
PUBLISHED: 2017, SOURCE: Amyloid, VOLUME: 24
INDEXED IN: Scopus
23
TITLE: Beta choline kinase deficiency: a rare cause of muscular dystrophy, cardiomyopathy and intellectual disability  Full Text
AUTHORS: Jorge Oliveira ; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Rita Goncalves; Emilia Vieira; Marcia E Oliveira; Ana Maria Fortuna; Mario Sousa; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
IN MY: ORCID
24
TITLE: Microangiopathy in Systemic Sclerosis: role of endothelial dysfunction and microvascular damage  Full Text
AUTHORS: Silva, I ; Teixeira, A; Oliveira, J ; Almeida, R; Vasconcelos, C;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
25
TITLE: Mutation analysis in patients with total sperm immotility and dysplasia of the fibrous sheath  Full Text
AUTHORS: Rute Pereira; Jorge Oliveira ; Luis Ferraz; Alberto Barros; Rosario Santos; Mario Sousa ;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
IN MY: ORCID
26
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
INDEXED IN: WOS
IN MY: ORCID
27
TITLE: The genetics of hereditary myopathies revisited by massive parallel sequencing  Full Text
AUTHORS: Jorge Oliveira ; Conceicai Egas; Jose C Machado ; Mario Sousa ; Rosario Santos;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
IN MY: ORCID
28
TITLE: Epithelial dysplasia of the stomach with gastric immunophenotype shows features of biological aggressiveness  Full Text
AUTHORS: Valente, P; Garrido, M; Gullo, I ; Baldaia, H; Marques, M ; Baldaque Silva, F; Lopes, J; Carneiro, F ;
PUBLISHED: 2015, SOURCE: GASTRIC CANCER, VOLUME: 18, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
29
TITLE: Mutation analysis in patients with total sperm immotility  Full Text
AUTHORS: Pereira R. ; Oliveira, J ; Ferraz, L; Barros, A ; Santos, R; Sousa, M ;
PUBLISHED: 2015, SOURCE: JOURNAL OF ASSISTED REPRODUCTION AND GENETICS, VOLUME: 32, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 32
IN MY: ORCID
Page 3 of 4. Total results: 35.