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Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYearFull text
Dr Richard Gallon
Peter Sowter
Rachel Phelps
Christine Hayes
Dr Gillian Borthwick
et al.
How should we test for lynch syndrome? A review of current guidelines and future strategies2021
Dr Richard Gallon
Dr Steven Cook
Dr Mauro Santibanez Koref
Dr Michael Jackson
Professor Sir John Burn
et al.
Sebaceous tumours: a prototypical class of skin tumour for universal germline genetic testing2021
Dr Richard Gallon
Dr Mauro Santibanez Koref
A slipped-CAG DNA-binding small molecule induces trinucleotide-repeat contractions in vivo.2020
Dr Hannah Lowes
Dr Angela Pyle
Dr Mauro Santibanez Koref
Dr Gavin Hudson
Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment2020
Dr Richard Gallon
Dr Michael Jackson
Dr Mauro Santibanez Koref
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 12020
Dr Richard Gallon
Dr Harsh Sheth
Christine Hayes
Lisa Redford
Dr Ghanim Alhilal
et al.
Sequencing‐based microsatellite instability testing using as few as six markers for high‐throughput clinical diagnostics2020
Dr Hannah Lowes
Dr Fiona Robertson
Dr Angela Pyle
Raf Hussain
Dr Jonathan Coxhead
et al.
The Human Coronavirus Receptor ANPEP (CD13) Is Overexpressed in Parkinson's Disease2020
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
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