Paula Maria Vieira Jorge
AuthID: R-002-5HV
11
TITLE: EGGS, Oranges and other technological devices in science dissemination
AUTHORS: Celina P Leão; Filomena Soares ; João Sena Esteves; Paula Jorge;
PUBLISHED: 2016, SOURCE: ASME International Mechanical Engineering Congress and Exposition, Proceedings (IMECE), VOLUME: 5
AUTHORS: Celina P Leão; Filomena Soares ; João Sena Esteves; Paula Jorge;
PUBLISHED: 2016, SOURCE: ASME International Mechanical Engineering Congress and Exposition, Proceedings (IMECE), VOLUME: 5
12
TITLE: Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect Full Text
AUTHORS: Noura Bougacha-Elleuch; Nadia Charfi; Nabil Miled; Houda Bouhajja; Neila Belguith; Mouna Mnif; Paula Jorge; Nessrine Chikhrouhou; Hammadi Ayadi; Mongia Hachicha; Mohamed Abid;
PUBLISHED: 2015, SOURCE: European Journal of Pediatrics - Eur J Pediatr, VOLUME: 174, ISSUE: 12
AUTHORS: Noura Bougacha-Elleuch; Nadia Charfi; Nabil Miled; Houda Bouhajja; Neila Belguith; Mouna Mnif; Paula Jorge; Nessrine Chikhrouhou; Hammadi Ayadi; Mongia Hachicha; Mohamed Abid;
PUBLISHED: 2015, SOURCE: European Journal of Pediatrics - Eur J Pediatr, VOLUME: 174, ISSUE: 12
13
TITLE: Erratum to: Segregation of S292F TPO gene mutation in three large Tunisian families with thyroid dyshormonogenesis: evidence of a founder effect(Eur J Pediatr, (2015), 174, 1491-1501, Doi:10.1007/s00431-015-2550-4)
AUTHORS: Bougacha Elleuch, N; Charfi, N; Miled, N; Bouhajja, H; Belguith, N; Mnif, M; Jorge, P; Chikhrouhou, N; Ayadi, H; Hachicha, M; Abid, M;
PUBLISHED: 2015, SOURCE: European Journal of Pediatrics, VOLUME: 174, ISSUE: 12
AUTHORS: Bougacha Elleuch, N; Charfi, N; Miled, N; Bouhajja, H; Belguith, N; Mnif, M; Jorge, P; Chikhrouhou, N; Ayadi, H; Hachicha, M; Abid, M;
PUBLISHED: 2015, SOURCE: European Journal of Pediatrics, VOLUME: 174, ISSUE: 12
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID14
TITLE: Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
AUTHORS: Marques, I; Sa, MJ; Soares, G; Mota, MD; Pinheiro, C; Aguiar, L; Amado, M; Soares, C; Calado, A; Dias, P; Sousa, AB; Fortuna, AM; Santos, R; Howell, KB; Ryan, MM; Leventer, RJ; Sachdev, R; Catford, R; Friend, K; Mattiske, TR; ...More
PUBLISHED: 2015, SOURCE: MOLECULAR GENETICS & GENOMIC MEDICINE, VOLUME: 3, ISSUE: 3
15
TITLE: A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis
AUTHORS: Paula Jorge; Maria Mota-Freitas; Rosário Santos; Maria Silva; Gabriela Soares; Ana Fortuna;
PUBLISHED: 2014, SOURCE: Journal of Clinical Medicine, VOLUME: 3, ISSUE: 3
AUTHORS: Paula Jorge; Maria Mota-Freitas; Rosário Santos; Maria Silva; Gabriela Soares; Ana Fortuna;
PUBLISHED: 2014, SOURCE: Journal of Clinical Medicine, VOLUME: 3, ISSUE: 3
16
TITLE: The Clinical Laboratory Genetics profession in Portugal Full Text
AUTHORS: Lina Ramos; Paula Jorge; Bárbara Marques; Madalena Avila; Paula Rendeiro; Maria D Quelhas; Joana B Melo; Isabel Marques Carreira;
PUBLISHED: 2013, SOURCE: European Human Genetics Conference (ESHG 2013), 8-11 june 2013, VOLUME: 21(Suppl 2)
AUTHORS: Lina Ramos; Paula Jorge; Bárbara Marques; Madalena Avila; Paula Rendeiro; Maria D Quelhas; Joana B Melo; Isabel Marques Carreira;
PUBLISHED: 2013, SOURCE: European Human Genetics Conference (ESHG 2013), 8-11 june 2013, VOLUME: 21(Suppl 2)
INDEXED IN: 
Handle
Handle17
TITLE: Desenvolvimento Neuropsicológico na Síndrome de X-Frágil: interpretar os perfis de desenvolvimento.
AUTHORS: Carla Carmona; Isabel Marques; Rosário Santos; Paula Jorge;
PUBLISHED: 2012, SOURCE: 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 22-24 Novembro 2012
AUTHORS: Carla Carmona; Isabel Marques; Rosário Santos; Paula Jorge;
PUBLISHED: 2012, SOURCE: 16ª Reunião Anual da Sociedade Portuguesa de Genética Humana, 22-24 Novembro 2012
INDEXED IN: Handle
Handle18
TITLE: Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes
AUTHORS: Joana Loureiro; Paula Jorge; Isabel Marques; Rosário Santos; Ana Seixas; Márcia Martins; José Vale; Jorge Sequeiros; Isabel Silveira;
PUBLISHED: 2012, SOURCE: European Human Genetics Conference, June 23-26, 2012
AUTHORS: Joana Loureiro; Paula Jorge; Isabel Marques; Rosário Santos; Ana Seixas; Márcia Martins; José Vale; Jorge Sequeiros; Isabel Silveira;
PUBLISHED: 2012, SOURCE: European Human Genetics Conference, June 23-26, 2012
INDEXED IN: Handle
Handle19
TITLE: FRAXE molecular diagnosis in individuals referred for FRAXA screening
AUTHORS: Javed Ali; G. Ali; Lina Caicedo; Isabel Marques; Rosário Santos; Paula Jorge;
PUBLISHED: 2012, SOURCE: American Society of Human Genetics (ASHG) 62nd Annual Meeting, November 6-10 2012
AUTHORS: Javed Ali; G. Ali; Lina Caicedo; Isabel Marques; Rosário Santos; Paula Jorge;
PUBLISHED: 2012, SOURCE: American Society of Human Genetics (ASHG) 62nd Annual Meeting, November 6-10 2012
INDEXED IN: Handle
Handle20
TITLE: Study of FRAXE-MR in intellectually disabled individuals referred for Fragile-X Syndrome testing in Portugal
AUTHORS: Paula Jorge; Isabel Marques; Rui Gonçalves; Miguel Gonçalves Rocha; Rosário Santos;
PUBLISHED: 2012, SOURCE: European Human Genetics Conference, 23-26 June 2012
AUTHORS: Paula Jorge; Isabel Marques; Rui Gonçalves; Miguel Gonçalves Rocha; Rosário Santos;
PUBLISHED: 2012, SOURCE: European Human Genetics Conference, 23-26 June 2012
INDEXED IN: Handle
Handle