Paula Maria Vieira Jorge
AuthID: R-002-5HV
11
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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Handle
Handle12
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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Handle13
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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Handle14
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
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Handle15
TITLE: A multiplex assay for X-linked intellectual disability assessment
AUTHORS: Paula Jorge; Isabel Marques; Bárbara Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011
AUTHORS: Paula Jorge; Isabel Marques; Bárbara Oliveira; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15th International Workshop on Fragile X and Other Early-Onset Cognitive Disorders, 4-7 September 2011
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Handle16
TITLE: Evaluating the influence of four variants detected in the FRAXA and FRAXE loci
AUTHORS: Isabel Marques; Paula Jorge; Joana Loureiro; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15ª Reunião Anual da SPGH, 10-12 Novembro 2011
AUTHORS: Isabel Marques; Paula Jorge; Joana Loureiro; Rosário Santos;
PUBLISHED: 2011, SOURCE: 15ª Reunião Anual da SPGH, 10-12 Novembro 2011
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Handle17
TITLE: Mutações no gene ARX e associação ao défice mental ligado ao X
AUTHORS: Marta Amado; Isabel Marques; Paula Jorge; Rosário Santos; José P Monteiro; Cristina Marçal Delgado;
PUBLISHED: 2011, SOURCE: 18ª Jornadas de Pediatria, 23-26 Novembro 2011
AUTHORS: Marta Amado; Isabel Marques; Paula Jorge; Rosário Santos; José P Monteiro; Cristina Marçal Delgado;
PUBLISHED: 2011, SOURCE: 18ª Jornadas de Pediatria, 23-26 Novembro 2011
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Handle18
TITLE: Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening
AUTHORS: Sílvia Pires; António J Nogueira; Odília Pinho; Tiago Delgado; Mário Sousa; Rosário Santos; Paula Jorge;
PUBLISHED: 2011, SOURCE: Twin Research and Human Genetics
AUTHORS: Sílvia Pires; António J Nogueira; Odília Pinho; Tiago Delgado; Mário Sousa; Rosário Santos; Paula Jorge;
PUBLISHED: 2011, SOURCE: Twin Research and Human Genetics
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Handle19
TITLE: Fragile X Syndrome: Genetic Backgrouds
AUTHORS: Joana Loureiro; Isabel Marques; Bárbara Oliveira; Amorim, Antonio; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
AUTHORS: Joana Loureiro; Isabel Marques; Bárbara Oliveira; Amorim, Antonio; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
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Handle20
TITLE: Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X Syndrome
AUTHORS: Bárbara Oliveira; Isabel Marques; Joana Loureiro; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
AUTHORS: Bárbara Oliveira; Isabel Marques; Joana Loureiro; Rosário Santos; Paula Jorge;
PUBLISHED: 2010, SOURCE: XVII Congresso Nacional de Bioquímica, 15-17 Dezembro 2010
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Handle