32
TITLE: MicroRNA promoter methylation: a new tool for accurate detection of urothelial carcinoma  Full Text
AUTHORS: Nuno Andre Padrao; Sara Monteiro Reis; Jorge Torres Ferreira; Luis Antunes; Luis Leca; Diana Montezuma; Joao Ramalho Carvalho; Paula C Dias; Paula Monteiro; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2017, SOURCE: BRITISH JOURNAL OF CANCER, VOLUME: 116, ISSUE: 5
INDEXED IN: Scopus WOS CrossRef: 16
34
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
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
35
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
36
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
37
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
38
TITLE: Histone methyltransferase PRMT6 plays an oncogenic role of in prostate cancer
AUTHORS: Diogo Almeida Rios; Ines Graca; Filipa Quintela Vieira; Joao Ramalho Carvalho; Eva Pereira Silva; Ana Teresa Martins; Jorge Oliveira; Celine S Goncalves; Bruno M Costa; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2016, SOURCE: ONCOTARGET, VOLUME: 7, ISSUE: 33
INDEXED IN: Scopus WOS CrossRef: 41
39
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
40
TITLE: The expanding phenotype of LAMA2-related muscular dystrophies: Four additional cases diagnosed during adulthood  Full Text
AUTHORS: Oliveira, J; Cardoso, M; Taipa, R; Goncalves, A; Oliveira, M; Melo Pires, M; Santos, M; Coelho, T; Santos, R;
PUBLISHED: 2016, SOURCE: 21st International Congress of the World-Muscle-Society in NEUROMUSCULAR DISORDERS, VOLUME: 26
INDEXED IN: WOS CrossRef
IN MY: ORCID
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