Development and validation of a multiplex-PCR assay for X-linked intellectual disability

by Jorge, Paula, Oliveira, Bárbara, Marques, Isabel, Santos, Rosário
Published 2013

Construction of antimicrobial peptide-drug combination networks from scientific literature based on a semi-automated curation workflow

by Jorge, Paula, Pérez-Pérez, Martín, Pérez Rodríguez, Gael, Fdez-Riverola, Florentino, Pereira, Maria Olívia, Lourenço, Anália
Published 2016

A 26-Year Experience in Chorionic Villus Sampling Prenatal Genetic Diagnosis

by Jorge, Paula, Mota-Freitas, Maria Manuela, Santos, Rosário, Silva, Maria Luz, Soares, Gabriela, Fortuna, Ana Maria
Published 2014

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

by Seixas, Ana I, Vale, José, Jorge, Paula, Marques, Isabel, Santos, Rosário, Alonso, Isabel, Fortuna, Ana M, Pinto-Basto, Jorge, Coutinho, Paula, Margolis, Russell L, Sequeiros, Jorge, Silveira, Isabel
Published 2011

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

by Marques, Isabel, Sá, Maria João, Soares, Gabriela, Mota, Maria do Céu, Pinheiro, Carla, Aguiar, Lisa, Amado, Marta, Soares, Christina, Calado, Angelina, Dias, Patrícia, Sousa, Ana Berta, Fortuna, Ana Maria, Santos, Rosário, Howell, Katherine B, Ryan, Monique M, Leventer, Richard J, Sachdev, Rani, Catford, Rachael, Friend, Kathryn, Mattiske, Tessa R, Shoubridge, Cheryl, Jorge, Paula
Published 2015