Data | Título | Autor(es) | Tipo | Acesso |
5-Jul-2019 | Genomic imbalances defining novel intellectual disability associated loci | Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al. | Artigo | Acesso aberto |
9-Fev-2016 | Identification of novel genetic causes of Rett syndrome-like phenotypes | Lopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al. | Artigo | Acesso aberto |
2018 | Identification of rare de novo epigenetic variations in congenital disorders | Barbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al. | Artigo | Acesso aberto |
Abr-2011 | Prostate cancer in Cowden syndrome: somatic loss and germline mutation of the PTEN gene | Barbosa, Mafalda Fernanda Cabral Santos; Henrique, Martinha; Pinto-Basto, Jorge, et al. | Carta ao editor | Acesso restrito UMinho |
22-Fev-2019 | The role of AKT3 copy number changes in brain abnormalities and neurodevelopmental disorders: four new cases and literature review | Lopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al. | Artigo | Acesso aberto |
Out-2017 | Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental disease | Lopes, Fátima Daniela Teixeira; Soares, Gabriela; Rocha, Miguel Gonçalves, et al. | Artigo | Acesso aberto |