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Apolipoprotein E epsilon4 allele in familial and sporadic Parkinson's disease

scientific article published on 14 August 2006

CD24 V/V is an allele associated with the risk of developing multiple sclerosis in the Spanish population

scientific article published on 01 August 2006

Does the severity of the LGMD2A phenotype in compound heterozygotes depend on the combination of mutations?

artículo científico publicado en 2011

Exon Junction Complex Shapes the Transcriptome by Repressing Recursive Splicing

artículo científico publicado en 2018

Exon Junction Complexes Suppress Spurious Splice Sites to Safeguard Transcriptome Integrity

artículo científico publicado en 2018

Genes related to iron metabolism and susceptibility to Alzheimer's disease in Basque population

artículo científico publicado en 2006

In vitro correction of a pseudoexon-generating deep intronic mutation in LGMD2A by antisense oligonucleotides and modified small nuclear RNAs.

artículo científico

Increased in vivo inhibition of gene expression by combining RNA interference and U1 inhibition.

artículo científico publicado en 2011

LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.

artículo científico publicado en 2005

Lessons from non-canonical splicing

artículo científico publicado en 2016

Somatic mosaicism in a case of apparently sporadic Creutzfeldt-Jakob disease carrying a de novo D178N mutation in the PRNP gene

artículo científico publicado en 2010

U1 snRNP control of 3'-end processing and the therapeutic application of U1 inhibition combined with RNA interference.

artículo científico