Resultados de procura - Mauro Santibanez‐Koref
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Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA por Yaobo Xu, Matt J. Barter, Daniel Swan, Kenneth S. Rankin, Andrew D. Rowan, Mauro Santibanez‐Koref, John Loughlin, David A. Young
Publicado 2012Artigo -
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Overexpression of aurora B kinase (AURKB) in primary non-small cell lung carcinoma is frequent, generally driven from one allele, and correlates with the level of genetic instabili... por Shirley L. Smith, Naomi L. Bowers, Daniel Betticher, Oliver Gautschi, Daniel Ratschiller, Paul R. Hoban, Richard Booton, Mauro Santibanez‐Koref, Jim Heighway
Publicado 2005Artigo -
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metabolic profiling of Parkinson's disease and mild cognitive impairment por Florence Burté, David Houghton, Hannah Lowes, Angela Pyle, Sarah Nesbitt, Alison J. Yarnall, Patrick Yu‐Wai‐Man, David J. Burn, Mauro Santibanez‐Koref, Gavin Hudson
Publicado 2017Artigo -
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Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression por B Whittle, Osagie Izuogu, Hannah Lowes, Dasha Deen, Angela Pyle, Jon Coxhead, Rachael A. Lawson, Alison J. Yarnall, Michael S. Jackson, Mauro Santibanez‐Koref, Gavin Hudson
Publicado 2024Artigo -
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Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular por Osagie Izuogu, Abd Alhasan, Carla Mellough, Joseph Collin, Richard Gallon, Jonathon Hyslop, Francesco Mastrorosa, Ingrid Ehrmann, Majlinda Lako, David J. Elliott, Mauro Santibanez‐Koref, Michael S. Jackson
Publicado 2018Artigo -
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Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations por Helen Griffin, Angela Pyle, Emma L. Blakely, Charlotte L. Alston, Jennifer Duff, Gavin Hudson, Rita Horváth, Ian Wilson, Mauro Santibanez‐Koref, Robert W. Taylor, Patrick F. Chinnery
Publicado 2014Artigo -
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Circular RNA enrichment in platelets is a signature of transcriptome degradation por Abd Alhasan, Osagie Izuogu, Haya H. Al‐Balool, Jannetta S. Steyn, Amanda S. Evans, Maria Colzani, Cédric Ghevaert, Joanne C. Mountford, Lamin Marenah, David J. Elliott, Mauro Santibanez‐Koref, Michael S. Jackson
Publicado 2015Artigo -
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HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development por Susan Lindsay, Yaobo Xu, Steven Lisgo, Lauren F. Harkin, Andrew J. Copp, Dianne Gerrelli, Gavin J. Clowry, Aysha Talbot, Michael J. Keogh, Jonathan Coxhead, Mauro Santibanez‐Koref, Patrick F. Chinnery
Publicado 2016Artigo -
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Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data por Maria Łastowska, Virginie Viprey, Mauro Santibanez‐Koref, Ilka Wappler, Heiko Peters, C. Cullinane, Paul Roberts, Andrew G. Hall, Deborah A. Tweddle, Andrew D.J. Pearson, Ian Lewis, S A Burchill, Michael S. Jackson
Publicado 2007Artigo -
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Exome sequencing in undiagnosed inherited and sporadic ataxias por Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez‐Koref, Gail Eglon, Patrick Yu‐Wai‐Man, Venkateswaran Ramesh, Rita Horváth, Patrick F. Chinnery
Publicado 2014Artigo
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Biology
Gene
Genetics
Medicine
Mutation
Internal medicine
Computational biology
Allele
Disease
Exome sequencing
Gene expression
Mitochondrial DNA
Pathology
Cell biology
Mitochondrial disease
Bioinformatics
DNA
Exome
Genome
Phenotype
Biochemistry
Microsatellite
Microsatellite instability
RNA
DNA microarray
DNA mismatch repair
DNA repair
Genotype
Immune system
Immunology