Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
2011	Caracterização molecular do gene TPO em crianças Portuguesas com hipotiroidismo congénito causado por disormonogénese	Nogueira, Célia; Vaz Osório, Rui; Santos, Rosário; Jorge, Paula
22-Nov-2012	Desenvolvimento Neuropsicológico na Síndrome de X-Frágil: interpretar os perfis de desenvolvimento.	Carmona, Carla; Marques, Isabel; Santos, Rosário; Jorge, Paula
Nov-2011	Evaluating the influence of four variants detected in the FRAXA and FRAXE loci	Marques, Isabel; Jorge, Paula; Loureiro, Joana; Santos, Rosário
Sep-2011	FMR1 premutations may be associated with a wider spectrum of phenotypes	Seixas, Ana; Vale, José; Martins, Márcia; Loureiro, Joana; Jorge, Paula; Maques, Isabel; Santos, Rosário; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, Isabel
10-May-2012	Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes	Loureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel
23-May-2012	Fragile X mental retardation 1 (FMR1) premutations: instability and associated phenotypes	Loureiro, Joana; Jorge, Paula; Marques, Isabel; Santos, Rosário; Seixas, Ana; Martins, Márcia; Vale, José; Sequeiros, Jorge; Silveira, Isabel
Dec-2010	Fragile X Mental Retardation Protein: broadening the possibilities for studying Fragile X Syndrome	Oliveira, Bárbara; Marques, Isabel; Loureiro, Joana; Santos, Rosário; Jorge, Paula
Dec-2010	Fragile X Syndrome: Genetic Backgrouds	Loureiro, Joana; Marques, Isabel; Oliveira, Bárbara; Amorim, António; Santos, Rosário; Jorge, Paula
6-Nov-2012	FRAXE molecular diagnosis in individuals referred for FRAXA screening	Ali, Javed; Ali, G.; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, Paula
22-Nov-2012	FRAXE molecular diagnosis in individuals referred for FRAXA screening	Javed, Ali; G., Ali; Caicedo, Lina; Marques, Isabel; Santos, Rosário; Jorge, Paula
Jun-2011	FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes	Seixas, Ana; Vale, José; Jorge, Paula; Marques, Isabel; Santos, Rosário; Alonso, Isabel; Fortuna, Ana; Pinto-Basto, Jorge; Coutinho, Paula; Margolis, Russell; Sequeiros, Jorge; Silveira, Isabel
Mar-2011	Molecular Assessment of X-Linked Intellectual Disability: A Gene Cluster Based Approach	Jorge, Paula; Criado, Maria Begoña; Oliveira, Bárbara
Sep-2011	A multiplex assay for X-linked intellectual disability assessment	Jorge, Paula; Marques, Isabel; Oliveira, Bárbara; Santos, Rosário
Nov-2011	Mutações no gene ARX e associação ao défice mental ligado ao X	Amado, Marta; Marques, Isabel; Jorge, Paula; Santos, Rosário; Monteiro, José Paulo; Marçal-Delgado, Cristina
Jul-2011	Premature ovarian insufficiency caused by FMR1 premutations may be underdiagnosed	Marques, Isabel; Jorge, Paula; Santos, Rosário
1-Jun-2011	Statistical Approach to Prenatal Zygosity Assessment Following a Decade of Molecular Aneuploidy Screening	Pires, Sílvia; Nogueira, António J.A.; Pinho, Odília; Delgado, Tiago; Sousa, Mário; Santos, Rosário; Jorge, Paula
23-Jun-2012	Study of FRAXE-MR in intellectually disabled individuals referred for Fragile-X Syndrome testing in Portugal	Jorge, Paula; Marques, Isabel; Gonçalves, Rui; Gonçalves-Rocha, Miguel; Santos, Rosário

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