|
|
Repositório Científico do Instituto Nacional de Saúde >
Browsing by Author Fortuna, Ana
Showing results 1 to 4 of 4
| Issue Date | Title | Author(s) | | 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 |
| Aug-2010 | Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51 | Santos, Rosário; Oliveira, Jorge; Vieira, Emília; Coelho, Teresa; Carneiro, António Leite; Evangelista, Teresinha; Dias, Cristina; Fortuna, Ana; Geraldo, Argemiro; Negrão, Luís; Guimarães, António; Bronze-da-Rocha, Elsa |
| Jul-2011 | A rare case of Beckwith–Wiedemann syndrome caused by a de novo microduplication at 11p15.5 of paternal origin | Ferreira, Cristina; Marques, Bárbara; Alves, Cristina; Barbosa, Mafalda; Fortuna, Ana; Reis-Lima, Margarida; Correia, Hildeberto |
| 22-Nov-2012 | Três rearranjos diferentes, três fenótipos diferentes :Estudo Familiar Cromossoma 14 | Lopes, Elisa; Silva, Isaltina; Mota Freitas, Manuela; Oliva Teles, Natalia; Fortuna, Ana; Correia, Hildeberto; Fonseca e Silva ML 1., Maria da Luz |
Showing results 1 to 4 of 4
|
