Paula Maria Vieira Jorge
AuthID: R-002-5HV
1
TITLE: Enhancing clinical decision-making for CNVs of uncertain significance in neurodevelopmental disorders: the relevance (or uselessness) of scoring and segregating
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 4
AUTHORS: Da Silva, Jorge Diogo; Maia, Nuno; Jorge, Paula; Sousa, Vanessa; Tkachenko, Nataliya; Soares, Ana Rita;
PUBLISHED: 2025, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 62, ISSUE: 4
INDEXED IN: 
WOS
WOS2
TITLE: Quality of life in adolescents with narcolepsy type 1-a transversal study in a tertiary hospital Full Text
AUTHORS: Salazar, Luis; Vieira, Paula Manuel; Cascais, Ines; Figueiroa, Sonia; Rios, Marta;
PUBLISHED: 2024, SOURCE: SLEEP MEDICINE, VOLUME: 113
AUTHORS: Salazar, Luis; Vieira, Paula Manuel; Cascais, Ines; Figueiroa, Sonia; Rios, Marta;
PUBLISHED: 2024, SOURCE: SLEEP MEDICINE, VOLUME: 113
INDEXED IN: 
Scopus WOS
Scopus WOS3
TITLE: Cumulus cell DNA damage linked to fertilization success in females with an ovulatory dysfunction phenotype
AUTHORS: Rodrigues, Barbara; Sousa, Vanessa; Esteves, Filipa ; Vale Fernandes, Emidio ; Costa, Solange; Sousa, Daniela; Brandao, Raquel; Leal, Carla; Pires, Joana; Gaivao, Isabel; Teixeira, Joao Paulo; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2024, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 12
AUTHORS: Rodrigues, Barbara; Sousa, Vanessa; Esteves, Filipa ; Vale Fernandes, Emidio ; Costa, Solange; Sousa, Daniela; Brandao, Raquel; Leal, Carla; Pires, Joana; Gaivao, Isabel; Teixeira, Joao Paulo; Nogueira, Antonio J. A.; Jorge, Paula;
PUBLISHED: 2024, SOURCE: FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY, VOLUME: 12
4
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
WOS5
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)
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Handle6
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
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Handle7
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
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Handle8
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
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Handle9
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
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Handle10
TITLE: Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese
AUTHORS: Célia Nogueira; Rui Vaz Osório; Rosário Santos; Paula Jorge;
PUBLISHED: 2011
AUTHORS: Célia Nogueira; Rui Vaz Osório; Rosário Santos; Paula Jorge;
PUBLISHED: 2011
INDEXED IN: Handle
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