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Showing results 1 to 8 of 8.
Issue DateTitleAuthor(s)TypeAccess
2008Analysis of highly conserved regions of the 3'UTR of MECP2 gene in patients with clinical diagnosis of Rett syndrome and other disorders associated with mental retardationSantos, Mónica; Yan, Jin; Temudo, Teresa, et al.ArticleRestricted access (UMinho)
15-Mar-2008Atypical stereotypies and vocal tics in Rett syndrome: an illustrative caseTemudo, Teresa; Freitas, Paula; Sequeiros, Jorge, et al.Letter to the editorRestricted access (UMinho)
2005Detection of heterozygous deletions and duplications in the MECP2 gene in Rett syndrome by Robust Dosage PCR (RD-PCR)Shi, Jinxiu; Shibayama, Akane; Liu, Qiang, et al.ArticleOpen access
5-Jul-2019Genomic imbalances defining novel intellectual disability associated lociLopes, Fátima Daniela Teixeira; Torres, Fátima; Soares, Gabriela, et al.ArticleOpen access
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
30-Jul-2008Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeTemudo, Teresa; Ramos, Elisabete; Dias, Karin, et al.ArticleRestricted access (UMinho)
Jan-2011Rett syndrome with and without detected MECP2 mutations : an attempt to redefine phenotypesTemudo, Teresa; Santos, Mónica; Ramos, Elisabete, 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