Showing results 1 to 20 of 41.
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| Issue Date | Title | Author(s) | Type | Access |
| Feb-2007 | Aberrant translation of cytochrome c oxidase subunit 1 mRNA species in the absence of Mss51p in the yeast Saccharomyces cerevisiae | Zambrano, Andrea; Fontanesi, Flavia; Solans, Asun, et al. | Article | Open access |
| 2016 | Absence of microsatellite instability and BRAF (V600E) mutation in testicular germ cell tumors | Cárcano, F. M.; Lengert, A. H.; Vidal, D. O., et al. | Article | Open access |
| Jul-2015 | Arabidopsis Squalene Epoxidase 3 (SQE3) Complements SQE1 and is important for embryo development and bulk squalene epoxidase activity | Laranjeira, Sara Catarina Costa; Amorim-Silva, Vitor; Esteban, Alicia, et al. | Article | Restricted access (Author) |
| 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. | Article | Restricted access (UMinho) |
| 2017 | Disruption of amyloid precursor protein ubiquitination selectively increases amyloid β (Aβ) 40 levels via presenilin 2-mediated cleavage | Williamson, Rebecca L.; Laulagnier, Karine; Miranda, André M., et al. | Article | Open access |
| 2007 | Dynamics of escape mutants | Serra, Maria Conceição; Haccou, Patsy | Article | Restricted access (UMinho) |
| Dec-2011 | Dynamics of mutant cells in hierarchical organized tissues | Werner, Benjamin; Dingli, David; Lenaerts, Tom, et al. | Article | Open access |
| Jan-2009 | Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatment | Temudo, T.; Rios, M.; Prior, C., et al. | Article | Open access |
| Jul-2018 | Evaluation of MLH1 variants of unclear significance | Köger, Nicole; Paulsen, Lea; López-Kostner, Francisco, et al. | Article | Open access |
| 2018 | Evolutionary dynamics of paroxysmal nocturnal hemoglobinuria | Mon Père, Nathaniel; Lenaerts, Tom; Pacheco, Jorge Manuel Santos, et al. | Article | Open access |
| Aug-2006 | Exclusion 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 phenotype | Costa, Maria do Carmo; Teixeira-Castro, Andreia; Constante, Marco, et al. | Article | Open access |
| 2018 | Generation of a human induced pluripotent stem cell line (CSC-40) from a Parkinson's disease patient with a PINK1 p.Q456X mutation | Russ, Kaspar; Marote, Ana Maria Franco Aveiro; Savchenko, Ekaterina, et al. | Article | Open access |
| 2018 | Generation of an induced pluripotent stem cell line (CSC-41) from a Parkinson's disease patient carrying a p.G2019S mutation in the LRRK2 gene | Marote, Ana; Pomeshchik, Yuriy; Collin, Anna, et al. | Article | Open access |
| 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. | Article | Open access |
| Jan-2019 | Generation 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 gene | Gustavsson, Nadja; Marote, Ana; Pomeshchik, Yuriy, et al. | Article | Open access |
| 2016 | Genetic Determinants of Drug Resistance in Mycobacterium tuberculosis and Their Diagnostic Value | Farhat, Maha R.; Sultana, Razvan; Iartchouk, Oleg, et al. | Article | Restricted access (UMinho) |
| 2016 | Hotspot TERT promoter mutations are rare events in testicular germ cell tumors | Cárcano, Flavio Mavignier; Vidal, Daniel Onofre; Lengert, André van Helvoort, et al. | Article | Restricted access (Author) |
| Mar-2008 | Isc1p plays a key role in hydrogen peroxide resistance and chronological lifespan through modulation of iron levels and apoptosis | Almeida, Teresa; Marques, Marta; Mojzita, Dominik, et al. | Article | Open access |
| Oct-2014 | KRAS and BRAF mutations and MSI status in precursor lesions of colorectal cancer detected by colonoscopy | Yamane, L. S.; Scapulatempo-Neto, C.; Alvarenga, L., et al. | Article | Restricted access (UMinho) |
| 2019 | Lack of KBTBD4 mutations in molecularly classified Brazilian medulloblastomas | Leal, Letícia Ferro; Cavagna, Rodrigo de Oliveira; Campanella, Nathalia Cristina, et al. | Article | Restricted access (Author) |
