Jorge Manuel Santos Marques Oliveira
AuthID: R-00H-JCF
51
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
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
WOS IN MY: 
ORCID
ORCID52
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
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
WOS53
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
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
54
TITLE: New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6
AUTHORS: Jorge Oliveira; Luis Negrao; Isabel Fineza; Ricardo Taipa; Manuel Melo Pires; Ana Maria Fortuna; Ana Rita Goncalves ; Hugo Froufe; Conceicao Egas; Rosario Santos; Mario Sousa ;
PUBLISHED: 2015, SOURCE: JOURNAL OF HUMAN GENETICS, VOLUME: 60, ISSUE: 6
55
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
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
56
TITLE: Preface
AUTHORS: Emre Celebi, M; Mendonça, TF; Marques, JS;
PUBLISHED: 2015, SOURCE: Dermoscopy Image Analysis
AUTHORS: Emre Celebi, M; Mendonça, TF; Marques, JS;
PUBLISHED: 2015, SOURCE: Dermoscopy Image Analysis
INDEXED IN: 
Scopus
Scopus57
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
58
TITLE: Accurate detection of upper tract urothelial carcinoma in tissue and urine by means of quantitative GDF15, TMEFF2 and VIM promoter methylation Full Text
AUTHORS: Sara Monteiro Reis; Luis Leca; Mafalda Almeida; Luis Antunes; Paula Monteiro; Paula C Dias; Antonio Morais; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF CANCER, VOLUME: 50, ISSUE: 1
AUTHORS: Sara Monteiro Reis; Luis Leca; Mafalda Almeida; Luis Antunes; Paula Monteiro; Paula C Dias; Antonio Morais; Jorge Oliveira; Rui Henrique ; Carmen Jerónimo ;
PUBLISHED: 2014, SOURCE: EUROPEAN JOURNAL OF CANCER, VOLUME: 50, ISSUE: 1
59
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
60
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
