Data | Título | Autor(es) | Tipo | Acesso |
Mai-2018 | Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disorders | Jobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R., et al. | Artigo | Acesso aberto |
19-Dez-2017 | Deciphering the genetic basis of intellectual disability through unbiased genomic approaches | Lopes, Fátima Daniela Teixeira | Tese de doutoramento | Acesso aberto |
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 |
Dez-2018 | MYOD1 involvement in myopathy | Lopes, Fátima Daniela Teixeira; Miguet, M.; Mucha, B. E., et al. | Carta ao editor | Acesso aberto |
2015 | Redefining the MED13L syndrome | Lopes, Fátima Daniela Teixeira; Adegbola, Abidemi; Musante, Luciana, et al. | Artigo | Acesso aberto |
Ago-2018 | Refining the phenotype associated with biallelic DNAJC21 mutations | D'Amours, G.; Lopes, Fátima Daniela Teixeira; Gauthier, J., et al. | Artigo | Acesso aberto |
Jan-2018 | The contribution of 7q33 copy number variations for intellectual disability | Lopes, Fátima Daniela Teixeira; Torres, Fátima; Lynch, Sally Ann, et al. | Artigo | Acesso aberto |
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 |
10-Nov-2015 | Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 gene | Vieira, José Pedro; Lopes, Fátima Daniela Teixeira; Fernandes, Anabela Silva, 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 |