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Issue DateTitleAuthor(s)TypeAccess
Feb-2007Aberrant translation of cytochrome c oxidase subunit 1 mRNA species in the absence of Mss51p in the yeast Saccharomyces cerevisiaeZambrano, Andrea; Fontanesi, Flavia; Solans, Asun, et al.ArticleOpen access
2016Absence of microsatellite instability and BRAF (V600E) mutation in testicular germ cell tumorsCárcano, F. M.; Lengert, A. H.; Vidal, D. O., et al.ArticleOpen access
Jul-2015Arabidopsis Squalene Epoxidase 3 (SQE3) Complements SQE1 and is important for embryo development and bulk squalene epoxidase activityLaranjeira, Sara Catarina Costa; Amorim-Silva, Vitor; Esteban, Alicia, et al.ArticleRestricted access (Author)
2005Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotypeVoer, G. de; Bent, P. van der; Rodrigues, Ana João, et al.ArticleRestricted access (UMinho)
2017Disruption of amyloid precursor protein ubiquitination selectively increases amyloid β (Aβ) 40 levels via presenilin 2-mediated cleavageWilliamson, Rebecca L.; Laulagnier, Karine; Miranda, André M., et al.ArticleOpen access
2007Dynamics of escape mutantsSerra, Maria Conceição; Haccou, PatsyArticleRestricted access (UMinho)
Dec-2011Dynamics of mutant cells in hierarchical organized tissuesWerner, Benjamin; Dingli, David; Lenaerts, Tom, et al.ArticleOpen access
Jan-2009Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatmentTemudo, T.; Rios, M.; Prior, C., et al.ArticleOpen access
Jul-2018Evaluation of MLH1 variants of unclear significanceKöger, Nicole; Paulsen, Lea; López-Kostner, Francisco, et al.ArticleOpen access
2018Evolutionary dynamics of paroxysmal nocturnal hemoglobinuriaMon Père, Nathaniel; Lenaerts, Tom; Pacheco, Jorge Manuel Santos, et al.ArticleOpen access
Aug-2006Exclusion of mutations in the PRNP, JPH3, TBP, ATN1, CREBBP, POU3F2 and FTL genes as a cause of disease in Portuguese patients with a Huntington-like phenotypeCosta, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al.ArticleOpen access
2018Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutationRuss, Kaspar; Marote, Ana Maria Franco Aveiro; Savchenko, Ekaterina, et al.ArticleOpen access
2018Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 geneMarote, Ana; Pomeshchik, Yuriy; Collin, Anna, et al.ArticleOpen access
Mar-2018Generation 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 geneMarote, Ana Maria Franco Aveiro; Pomeshchik, Yuriy; Goldwurm, Stefano, et al.ArticleOpen access
Jan-2019Generation of an induced pluripotent stem cell line (CSC-46) from a patient with Parkinson's disease carrying a novel p.R301C mutation in the GBA geneGustavsson, Nadja; Marote, Ana; Pomeshchik, Yuriy, et al.ArticleOpen access
2016Genetic Determinants of Drug Resistance in Mycobacterium tuberculosis and Their Diagnostic ValueFarhat, Maha R.; Sultana, Razvan; Iartchouk, Oleg, et al.ArticleRestricted access (UMinho)
2016Hotspot TERT promoter mutations are rare events in testicular germ cell tumorsCárcano, Flavio Mavignier; Vidal, Daniel Onofre; Lengert, André van Helvoort, et al.ArticleRestricted access (Author)
Mar-2008Isc1p plays a key role in hydrogen peroxide resistance and chronological lifespan through modulation of iron levels and apoptosisAlmeida, Teresa; Marques, Marta; Mojzita, Dominik, et al.ArticleOpen access
Oct-2014KRAS and BRAF mutations and MSI status in precursor lesions of colorectal cancer detected by colonoscopyYamane, L. S.; Scapulatempo-Neto, C.; Alvarenga, L., et al.ArticleRestricted access (UMinho)
2019Lack of KBTBD4 mutations in molecularly classified Brazilian medulloblastomasLeal, Letícia Ferro; Cavagna, Rodrigo de Oliveira; Campanella, Nathalia Cristina, et al.ArticleRestricted access (Author)