Αποτελέσματα αναζήτησης - Mauro Santibanez‐Koref
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How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies από Richard Gallon, Peter Gawthorpe, Rachel Phelps, Christine Hayes, Gillian M. Borthwick, Mauro Santibanez‐Koref, Michael S. Jackson, John Burn
Έκδοση 2021Revisão -
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Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans από Angela Pyle, Gavin Hudson, Ian Wilson, Jonathan Coxhead, Tania Smertenko, Mary Herbert, Mauro Santibanez‐Koref, Patrick F. Chinnery
Έκδοση 2015Artigo -
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Identification of the pathogenic pathways in osteoarthritic hip cartilage: commonality and discord between hip and knee OA από Yaobo Xu, Matt J. Barter, Daniel Swan, Kenneth S. Rankin, Andrew D. Rowan, Mauro Santibanez‐Koref, John Loughlin, David A. Young
Έκδοση 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... από Shirley L. Smith, Naomi L. Bowers, Daniel Betticher, Oliver Gautschi, Daniel Ratschiller, Paul R. Hoban, Richard Booton, Mauro Santibanez‐Koref, Jim Heighway
Έκδοση 2005Artigo -
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metabolic profiling of Parkinson's disease and mild cognitive impairment από 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
Έκδοση 2017Artigo -
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Early-stage idiopathic Parkinson’s disease is associated with reduced circular RNA expression από 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
Έκδοση 2024Artigo -
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Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular από 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
Έκδοση 2018Artigo -
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Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations από 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
Έκδοση 2014Artigo -
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Circular RNA enrichment in platelets is a signature of transcriptome degradation από 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
Έκδοση 2015Artigo -
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HDBR Expression: A Unique Resource for Global and Individual Gene Expression Studies during Early Human Brain Development από 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
Έκδοση 2016Artigo -
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Identification of candidate genes involved in neuroblastoma progression by combining genomic and expression microarrays with survival data από 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
Έκδοση 2007Artigo -
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Exome sequencing in undiagnosed inherited and sporadic ataxias από 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
Έκδοση 2014Artigo
Εργαλεία αναζήτησης:
Σχετικά θέματα
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