Percorrer por assunto Mutation

Índice: 0-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

ou inserir as letras iniciais:  

Mostrar 8-27 de um total de 41 resultados. < anterior   próximo >
DataTítuloAutor(es)TipoAcesso
Jan-2009Evaluation of CSF neurotransmitters and folate in 25 patients with Rett disorder and effects of treatmentTemudo, T.; Rios, M.; Prior, C., et al.ArtigoAcesso aberto
Jul-2018Evaluation of MLH1 variants of unclear significanceKöger, Nicole; Paulsen, Lea; López-Kostner, Francisco, et al.ArtigoAcesso aberto
2018Evolutionary dynamics of paroxysmal nocturnal hemoglobinuriaMon Père, Nathaniel; Lenaerts, Tom; Pacheco, Jorge Manuel Santos, et al.ArtigoAcesso aberto
Ago-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.ArtigoAcesso aberto
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.ArtigoAcesso aberto
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.ArtigoAcesso aberto
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.ArtigoAcesso aberto
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.ArtigoAcesso aberto
2016Genetic Determinants of Drug Resistance in Mycobacterium tuberculosis and Their Diagnostic ValueFarhat, Maha R.; Sultana, Razvan; Iartchouk, Oleg, et al.ArtigoAcesso restrito UMinho
2016Hotspot TERT promoter mutations are rare events in testicular germ cell tumorsCárcano, Flavio Mavignier; Vidal, Daniel Onofre; Lengert, André van Helvoort, et al.ArtigoAcesso restrito autor
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.ArtigoAcesso aberto
Out-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.ArtigoAcesso restrito UMinho
2019Lack of KBTBD4 mutations in molecularly classified Brazilian medulloblastomasLeal, Letícia Ferro; Cavagna, Rodrigo de Oliveira; Campanella, Nathalia Cristina, et al.ArtigoAcesso restrito autor
2012Mesenchymal transition and PDGFRA amplification/mutation are key distinct oncogenic events in pediatric diffuse intrinsic pontine gliomasPuget, Stephanie; Philippe, Cathy; Bax, Dorine A, et al.ArtigoAcesso aberto
2009A method for the generation of ectromelia virus (ECTV) recombinants: in vivo analysis of ECTV vCD30 deletion mutantsAlejo, Ali; Saraiva, Margarida; Ruiz-Argüello, Maria Begoña, et al.ArtigoAcesso aberto
2017Mild Left Ventricular Hypertrophy Unravels a Novel Nonsense Mutation of the GLA Gene Associated with the Classical Phenotype of Fabry DiseaseAzevedo, Olga; Gago, Miguel; Miltenberger-Miltenyi, Gabriel, et al.ArtigoAcesso restrito autor
Nov-2008Motor and cognitive deficits in the heterozygous leaner mouse, a Cav2.1 voltage-gated Ca2+ channel mutantAlonso, Isabel; Marques, Joana M.; Sousa, Nuno, et al.ArtigoAcesso aberto
30-Jul-2008Movement disorders in Rett syndrome: an analysis of 60 patients with detected MECP2 mutation and correlation with mutation typeTemudo, Teresa; Ramos, Elisabete; Dias, Karin, et al.ArtigoAcesso restrito UMinho
Set-2011Mutation-based artificial fish swarm algorithm for bound constrained global optimizationRocha, Ana Maria A. C.; Fernandes, Edite Manuela da G. P.Artigo em ata de conferênciaAcesso aberto
Nov-2019Mutational profile of driver genes in Brazilian melanomasVicente, Anna Luiza S. A.; Crovador, Camila S.; Macedo, Graziela, et al.ArtigoAcesso aberto
Mostrar 8-27 de um total de 41 resultados. < anterior   próximo >