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Showing results 1 to 7 of 7.
Issue DateTitleAuthor(s)TypeAccess
2012Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patientsBarbosa, Mafalda Fernanda Cabral Santos; Lopes, A.; Mota, C., et al.ArticleRestricted access (UMinho)
Nov-2013Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patientsSanten, Gijs W. E.; Aten, Emmelien; Vulto-van Silfhout, Anneke T., et al.ArticleRestricted access (UMinho)
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
2018Identification of rare de novo epigenetic variations in congenital disordersBarbosa, Mafalda; Joshi, Ricky S.; Garg, Paras, et al.ArticleOpen access
2016Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implicationsTorres, Fátima; Barbosa, Mafalda Fernanda Cabral Santos; Maciel, P.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