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Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYearFull text
Dr Richard Gallon
Dr Harsh Sheth
Christine Hayes
Dr Gillian Borthwick
Professor Sir John Burn
et al.
A sensitive and scalable microsatellite instability assay to diagnose constitutional mismatch repair deficiency by sequencing of peripheral blood leukocytes2019
Dr David Swan
Dr Karin Engelhardt
Dr Rui Chen
Dr Rolando Berlinguer Palmini
Dr Tarana Singh Dang
et al.
An essential role for the Zn2+ transporter ZIP7 in B cell development2019
Dr Carla Mellough
Dr Roman Bauer
Dr Joseph Collin
Dr Darin Zerti
Dr David Dolan
et al.
An integrated transcriptional analysis of the developing human retina2019
Dr Mauro Santibanez Koref
Dr Helen Griffin
Professor Doug Turnbull
Professor Patrick Chinnery
Professor Mary Herbert
et al.
Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution2019
Dr Harsh Sheth
Dr Mauro Santibanez Koref
Professor Sir John Burn
Association of stroke and bleed events in non-valvular atrial fibrillation patients with direct oral anticoagulant prescriptions in NHS England between 2013 and 20162019
Dr Majid Arefi
Dr Valerie Wilson
Dr Siobhan Muthiah
Dr Simon Zwolinski
Dr Dalvir Bajwa
et al.
Diverse presentations of cutaneous mosaicism occur in CYLD cutaneous syndrome and may result in parent to child transmission2019
Lisa Redford
Dr Ghanim Alhilal
Dr Stephanie Needham
Ottilia O'Brien
Julie Coaker
et al.
A novel panel of short mononucleotide repeats linked to informative polymorphisms enabling effective high volume low cost discrimination between mismatch repair deficient and proficient tumours2018
Dr Osagie Izuogu
Dr Carla Mellough
Dr Joseph Collin
Richard Gallon
Francesco Kumara Mastrorosa
et al.
Analysis of human ES cell differentiation establishes that the dominant isoforms of the lncRNAs RMST and FIRRE are circular2018
Dr Rebecca Darlay
Aisling Stewart
Dr Yaobo Xu
Dr Heather Lambert
Dr Mauro Santibanez Koref
et al.
Erratum: Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux (Scientific reports (2017) 7 1 (14595))2018
Dr Harsh Sheth
Dr Michael Jackson
Dr Mauro Santibanez Koref
Professor Sir John Burn
Interaction between polymorphisms in aspirin metabolic pathways, regular aspirin use and colorectal cancer risk: A case-control study in unselected white European populations2018
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