Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYear
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Helen Griffin
Dr Mauro Santibanez Koref
et al.		Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Kelvin Lee
Dr Mauro Santibanez Koref
Dr Tuomo Polvikoski
Dr Daniel Birchall
Professor David Mendelow
et al.		Increased expression of fatty acid binding protein 4 and leptin in resident macrophages characterises atherosclerotic plaque rupture2013
Dr Angela Pyle
Dr Helen Griffin
Dr Michael Keogh
Dr Mauro Santibanez Koref
Professor Patrick Chinnery
et al.		Multisystem fatal infantile disease caused by a novel homozygous EARS2 mutation2013
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
Dr Gavin Hudson
et al.		A new phenotype of brain iron accumulation with dystonia, optic atrophy and peripheral neuropathy2012
Dr Rita Horvath
Vivienne Neeve
Dr Angela Pyle
Dr Helen Griffin
Deepthi Ashok
et al.		A new phenotype of brain iron accumulation with dystonia, optic atrophy, and peripheral neuropathy2012
Madhushika Ratnayake
Dr Louise Reynard
Emma Raine
Dr Mauro Santibanez Koref
Professor John Loughlin
et al.		Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL32012
Madhushika Ratnayake
Dr Louise Reynard
Emma Raine
Dr Mauro Santibanez Koref
Professor John Loughlin
et al.		Allelic expression analysis of the osteoarthritis susceptibility locus that maps to MICAL32012
Dr Mauro Santibanez Koref
Professor John Loughlin
An investigation of the effect of exogenous growth factor GDF5 on primary OA chondrocytes - is there a predictable response?2012
Dr Mauro Santibanez Koref
Atl1 regulates choice between global genome and transcription-coupled repair of O6-alkylguanines2012
Dr Sophie Hambleton
Dr David McDonald
Dr Helen Griffin
Angela Grainger
Dr Louise Reynard
et al.		Autosomal recessive combines immunodeficiency due to loss of function mutation in Tripeptidyl Peptidase II2012
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