Data | Título | Autor(es) | Tipo | Acesso |
2008 | Analysis 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 retardation | Santos, Mónica; Yan, Jin; Temudo, Teresa, et al. | Artigo | Acesso restrito UMinho |
2005 | Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype | Voer, G. de; Bent, P. van der; Rodrigues, Ana João, et al. | Artigo | Acesso restrito UMinho |
Mai-2019 | Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification | Parsons, Michael T.; Tudini, Emma; Li, Hongyan, et al. | Artigo | Acesso aberto |
Jun-2007 | MECP2 coding sequence and 3'UTR variation in 172 unrelated autistic patients | Coutinho, Ana M.; Oliveira, Guiomar; Katz, Cécile, et al. | Artigo | Acesso restrito UMinho |
30-Jul-2008 | Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation type | Temudo, Teresa; Ramos, Elisabete; Dias, Karin, et al. | Artigo | Acesso restrito UMinho |
2019 | p.G360R Is a Pathogenic GLA Gene Mutation Responsible for a Classic Phenotype of Fabry Disease | Carvalho Silva, Daniela Marisa; Marques, Nuno; Azevedo, Olga, et al. | Artigo | Acesso restrito autor |