Résultats de la recherche - Santibanez-Koref, Mauro
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Functional Characterization of the Osteoarthritis Susceptibility Mapping to CHST11—A Bioinformatics and Molecular Study par Reynard, Louise N., Ratnayake, Madhushika, Santibanez-Koref, Mauro, Loughlin, John
Publié 2016Texte -
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Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 2016 par Sheth, Harsh, McNally, Daniel, Santibanez-Koref, Mauro, Burn, John
Publié 2019Texte -
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Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution par Santibanez-Koref, Mauro, Griffin, Helen, Turnbull, Douglass M., Chinnery, Patrick F., Herbert, Mary, Hudson, Gavin
Publié 2019Texte -
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Erratum to: PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events par Izuogu, Osagie G., Alhasan, Abd A., Alafghani, Hani M., Santibanez-Koref, Mauro, Elliott, David J., Jackson, Michael S.
Publié 2016Texte -
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Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans par Pyle, Angela, Hudson, Gavin, Wilson, Ian J., Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F.
Publié 2015Texte -
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How Should We Test for Lynch Syndrome? A Review of Current Guidelines and Future Strategies par Gallon, Richard, Gawthorpe, Peter, Phelps, Rachel L., Hayes, Christine, Borthwick, Gillian M., Santibanez-Koref, Mauro, Jackson, Michael S., Burn, John
Publié 2021Texte -
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Using population data for assessing next-generation sequencing performance par Houniet, Darren T., Rahman, Thahira J., Al Turki, Saeed, Hurles, Matthew E., Xu, Yaobo, Goodship, Judith, Keavney, Bernard, Santibanez Koref, Mauro
Publié 2015Texte -
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Impact of Month of Birth on the Risk of Development of Autoimmune Addison's Disease par Pazderska, Agnieszka, Fichna, Marta, Mitchell, Anna L., Napier, Catherine M., Gan, Earn, Ruchała, Marek, Santibanez-Koref, Mauro, Pearce, Simon H.
Publié 2016Texte -
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Late-onset sacsinopathy diagnosed by exome sequencing and comparative genomic hybridisation par Pyle, Angela, Griffin, Helen, Duff, Jennifer, Zwolinski, Simon, Smertenko, Tania, Yu-Wai-Man, Patrick, Santibanez-Koref, Mauro, Horvath, Rita, Chinnery, Patrick F.
Publié 2013Texte -
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Evidence for Widespread Reticulate Evolution within Human Duplicons par Jackson, Michael S. , Oliver, Karen , Loveland, Jane , Humphray, Sean , Dunham, Ian , Rocchi, Mariano , Viggiano, Luigi , Park, Jonathan P. , Hurles, Matthew E. , Santibanez-Koref, Mauro
Publié 2005Texte -
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Using MRI to predict future adverse cardiac remodelling in a male mouse model of myocardial infarction par Redgrave, Rachael E., Tual-Chalot, Simon, Davison, Benjamin J., Greally, Elizabeth, Santibanez-Koref, Mauro, Schneider, Jurgen E., Blamire, Andrew M., Arthur, Helen M.
Publié 2016Texte -
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Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent-to-child transmission par Arefi, Majid, Wilson, Valerie, Muthiah, Siobhan, Zwolinski, Simon, Bajwa, Dalvir, Brennan, Paul, Blasdale, Katie, Bourn, David, Burn, John, Santibanez-Koref, Mauro, Rajan, Neil
Publié 2019Texte