Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYearFull text
Dr Veronika Boczonadi
Dr Juliane Mueller
Dr Angela Pyle
Dr Jennifer Munkley
Michele Giunta
et al.
EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia2014
Dr Patrick Yu Wai Man
Dr Angela Pyle
Dr Helen Griffin
Dr Mauro Santibanez Koref
Professor Rita Horvath
et al.
Abnormal retinal thickening is a common feature among patients with ARSACS-related phenotypes2014
Dr Ruairidh Martin
Dr Oksana Pogoryelova
Dr Mauro Santibanez Koref
Dr John Bourke
Professor Bernard Keavney
et al.
Atrial fibrillation associated with ivabradine treatment: meta-analysis of randomised controlled trials2014
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 Louise Reynard
Dr Madhushika Ratnayake
Dr Mauro Santibanez Koref
Professor John Loughlin
Functional analysis of the osteoarthritis susceptibility locus residing at the carbohydrate sulfotransferase 11 gene CHST112014
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 CHEK1 splicing switch among alternative and constitutive target exons2014
Professor Robert Taylor
Dr Angela Pyle
Dr Helen Griffin
Dr Jennifer Duff
Dr Langping He
et al.
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies2014
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
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