Browsing by Author Jorge, Paula

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Showing results 2 to 17 of 17 < previous 
Issue DateTitleAuthor(s)TypeAccess Type
22-Nov-2012Desenvolvimento Neuropsicológico na Síndrome de X-Frágil: interpretar os perfis de desenvolvimento.Carmona, Carla; Marques, Isabel; Santos, Rosário; Jorge, PaulaconferenceObjectrestrictedAccess
Nov-2011Evaluating the influence of four variants detected in the FRAXA and FRAXE lociMarques, Isabel; Jorge, Paula; Loureiro, Joana; Santos, RosárioconferenceObjectopenAccess
Sep-2011FMR1 premutations may be associated with a wider spectrum of phenotypesSeixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, IsabelotheropenAccess
23-May-2012Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypesLoureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelconferenceObjectrestrictedAccess
10-May-2012Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypesLoureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, IsabelconferenceObjectrestrictedAccess
Dec-2010Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X SyndromeOliveira, Bárbara; Marques, Isabel; Loureiro, Joana; Santos, Rosário; Jorge, PaulaconferenceObjectopenAccess
Dec-2010Fragile X Syndrome: Genetic BackgroudsLoureiro, Joana; Marques, Isabel; Oliveira, Bárbara; Amorim, António; Santos, Rosário; Jorge, PaulaconferenceObjectopenAccess
6-Nov-2012FRAXE molecular diagnosis in individuals referred for FRAXA screeningAli, Javed; Ali, G.; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, PaulaconferenceObjectopenAccess
22-Nov-2012FRAXE molecular diagnosis in individuals referred for FRAXA screeningJaved, Ali; G., Ali; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, PaulaconferenceObjectrestrictedAccess
Jun-2011FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypesSeixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, IsabelarticleopenAccess
Sep-2011A multiplex assay for X-linked intellectual disability assessmentJorge, Paula; Marques, Isabel; Oliveira, Bárbara; Santos, RosárioconferenceObjectopenAccess
Nov-2011Mutações no gene ARX e associação ao défice mental ligado ao XAmado, Marta; Marques, Isabel; Jorge, Paula; Santos, Rosário; Monteiro, José Paulo; Marçal-Delgado, CristinaconferenceObjectrestrictedAccess
Jul-2011Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosedMarques, Isabel; Jorge, Paula; Santos, RosáriolecturerestrictedAccess
1-Jun-2011Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy ScreeningPires, Sílvia; Nogueira, António J.A.; Pinho, Odília; Delgado, Tiago; Sousa, Mário; Santos, Rosário; Jorge, PaulaarticlerestrictedAccess
23-Jun-2012Study of FRAXE-MR in intellectually disabled individuals referred for Fragile-X Syndrome testing in PortugalJorge, Paula; Marques, Isabel; Gonçalves, Rui; Gonçalves-Rocha, Miguel; Santos, RosárioconferenceObjectrestrictedAccess
Jun-2013The Clinical Laboratory Genetics profession in PortugalRamos, Lina; Jorge, Paula; Marques, Bárbara; Avila, Madalena; Rendeiro, Paula; Quelhas, Maria Dulce; Melo, Joana B.; Marques Carreira, IsabelconferenceObjectopenAccess