Paula Maria Vieira Jorge
AuthID: R-002-5HV
11
TITLE: Development and Validation of a Mathematical Model to Predict the Complexity of FMR1 Allele Combinations Full Text
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
AUTHORS: Rodrigues, B; Vale Fernandes, E; Maia, N; Santos, F; Marques, I; Santos, R; Nogueira, AJA; Jorge, P;
PUBLISHED: 2020, SOURCE: FRONTIERS IN GENETICS, VOLUME: 11
12
TITLE: Rare Pathogenic Copy Number Variation in the 16p11.2 (BP4–BP5) Region Associated with Neurodevelopmental and Neuropsychiatric Disorders: A Review of the Literature
AUTHORS: Natália Oliva-Teles; Maria Chiara de Stefano; Louise Gallagher; Severin Rakic; Paula Jorge; Goran Cuturilo; Silvana Markovska-Simoska; Isabella Borg; Jeanne Wolstencroft; Zeynep Tümer; Adrian J Harwood; Yllka Kodra; David Skuse;
PUBLISHED: 2020, SOURCE: International Journal of Environmental Research and Public Health, VOLUME: 17, ISSUE: 24
AUTHORS: Natália Oliva-Teles; Maria Chiara de Stefano; Louise Gallagher; Severin Rakic; Paula Jorge; Goran Cuturilo; Silvana Markovska-Simoska; Isabella Borg; Jeanne Wolstencroft; Zeynep Tümer; Adrian J Harwood; Yllka Kodra; David Skuse;
PUBLISHED: 2020, SOURCE: International Journal of Environmental Research and Public Health, VOLUME: 17, ISSUE: 24
13
TITLE: Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants – A diagnostic challenge
AUTHORS: Salgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, M;
PUBLISHED: 2019, SOURCE: eNeurologicalSci, VOLUME: 14
AUTHORS: Salgado, P; Carvalho, R; Brandão, AF; Jorge, P; Ramos, C; Dias, D; Alonso, I; Magalhães, M;
PUBLISHED: 2019, SOURCE: eNeurologicalSci, VOLUME: 14
14
TITLE: FMR1 gene-zygosity discrimination: the use of hrMCA in female samples Full Text
AUTHORS: Stephanie Salgado; Nuno Maia; Eduardo Cruz; Isabel Marques; Rosario Santos; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Stephanie Salgado; Nuno Maia; Eduardo Cruz; Isabel Marques; Rosario Santos; Paula Jorge;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: 
WOS
WOS15
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
16
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
17
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
ORCID18
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
19
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
20
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: 
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