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Showing results 1 to 10 of 10.
Issue DateTitleAuthor(s)TypeAccess
May-2018Chitayat-Hall and Schaaf-Yang syndromes: a common aetiology: expanding the phenotype of MAGEL2-related disordersJobling, Rebekah; Stavropoulos, Dimitri James; Marshall, Christian R., et al.ArticleOpen access
19-Dec-2017Deciphering the genetic basis of intellectual disability through unbiased genomic approachesLopes, Fátima Daniela TeixeiraDoctoral thesisEmbargoed access (3 Years)
9-Feb-2016Identification of novel genetic causes of Rett syndrome-like phenotypesLopes, Fátima Daniela Teixeira; Barbosa, Mafalda Fernanda Cabral Santos; Soares, Gabriela, et al.ArticleOpen access
2018Identification of rare de novo epigenetic variations in congenital disordersBarbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al.ArticleOpen access
Dec-2018MYOD1 involvement in myopathyLopes, Fátima Daniela Teixeira; Miguet, M.; Mucha, B. E., et al.Letter to the editorEmbargoed access (1 Year)
2015Redefining the MED13L syndromeLopes, Fátima Daniela Teixeira; Adegbola, Abidemi; Musante, Luciana, et al.ArticleOpen access
Aug-2018Refining the phenotype associated with biallelic DNAJC21 mutationsD'Amours, G.; Lopes, Fátima Daniela Teixeira; Gauthier, J., et al.ArticleEmbargoed access (1 Year)
Jan-2018The contribution of 7q33 copy number variations for intellectual disabilityLopes, Fátima Daniela Teixeira; Torres, Fátima; Lynch, Sally Ann, et al.ArticleOpen access
10-Nov-2015Variant Rett syndrome in a girl with a pericentric X-chromosome inversion leading to epigenetic changes and overexpression of the MECP2 geneVieira, José Pedro; Lopes, Fátima Daniela Teixeira; Fernandes, Anabela Silva, et al.ArticleOpen access
Oct-2017Whole gene deletion of EBF3 supporting haploinsufficiency of this gene as a mechanism of neurodevelopmental diseaseLopes, Fátima Daniela Teixeira; Soares, Gabriela; Rocha, Miguel Gonçalves, et al.ArticleOpen access