Data | Título | Autor(es) | Tipo | Acesso |
Abr-2007 | Evidence for abnormal early development in a mouse model of Rett syndrome | Santos, Mónica; Silva-Fernandes, Anabela; Oliveira, P., et al. | Artigo | Acesso restrito UMinho |
Mar-2018 | Generation of an induced pluripotent stem cell line (CSC-44) from a Parkinson's disease patient carrying a compound heterozygous mutation (c.823C>T and EX6 del) in the PARK2 gene | Marote, Ana Maria Franco Aveiro; Pomeshchik, Yuriy; Goldwurm, Stefano, et al. | Artigo | Acesso aberto |
2017 | Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry Disease | Azevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel, et al. | Artigo | Acesso restrito autor |
Abr-2009 | Neurodevelopmental delay in the Cln3Δex7/8 mouse model for Batten disease | Osório, Nuno S.; Marques, Maria Belém Sousa Sampaio; Chan, C-H, et al. | Artigo | Acesso aberto |
Abr-2007 | Stereotypies in Rett syndrome: analysis of 83 patients with and without detected MECP2 mutations | Temudo, T.; Oliveira, P.; Santos, M., et al. | Artigo | Acesso restrito UMinho |