Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYear
Dr Edwin Wong
Dr Holly Anderson
Rachel Challis
Dr Lisa Turnbull
Daniel Ahlert
et al.
Characterization of a Factor H Mutation That Perturbs the Alternative Pathway of Complement in a Family with Membranoproliferative GN2014
Dr John Yarham
Dr Angela Pyle
Dr Francesco Bruni
Dr Langping He
Dr Helen Griffin
et al.
Defective i6A37 Modification of Mitochondrial and Cytosolic tRNAs Results from Pathogenic Mutations in TRIT1 and its Substrate tRNA2014
Dr Madhushika Ratnayake
Dr Mauro Santibanez Koref
Professor John Loughlin
Human Chondrocytes Respond Discordantly to the Protein Encoded by the Osteoarthritis Susceptibility Gene GDF52014
Andy Best
Caroline Dalgliesh
Elaine Hong
Mahsa Kheirollahi Kouhestani
Yaobo Xu
et al.
Human Tra2 proteins jointly control a CHK1 splicing switch amongst alternative and constitutive target exons2014
Vivienne Neeve
Dr Angela Pyle
Dr Veronika Boczonadi
Dr Aurora Gomez Duran
Dr Helen Griffin
et al.
Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT2013
Dr Maria Lastowska
Hani Al-Afghani
Haya AL-Balool
Dr Jonathan Coxhead
et al.
Identification of a neuronal transcription factor network involved in medulloblastoma development2013
Dr Kelvin Lee
Dr Mauro Santibanez Koref
Dr Tuomo Polvikoski
Dr Daniel Birchall
Professor Alexander 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 Jennifer Duff
Shona Bennett
Dr Simon Zwolinksi
et al.
Late-Onset Sacsinopathy Diagnosed by Exome Sequencing and Comparative Genomic Hybridization2013
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
Darren Houniet
Dr Thahira Rahman
Dr Mauro Santibanez Koref
Professor Bernard Keavney
Mutations in FAM111B Cause Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis2013