Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYearFull text
Dr Angela Pyle
Tania Smertenko
Dr David Bargiela
Dr Helen Griffin
Dr Jennifer Duff
et al.
Exome sequencing in undiagnosed inherited and sporadic ataxias2015
Dr Angela Pyle
Dr Gavin Hudson
Dr Ian Wilson
Dr Jonathan Coxhead
Tania Smertenko
et al.
Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans2015
Dr Angela Pyle
Helen Nightingale
Dr Helen Griffin
Dr Konstantinos Douroudis
Dr Mauro Santibanez Koref
et al.
Respiratory chain deficiency in nonmitochondrial disease2015
Yaobo Xu
Dr Mauro Santibanez Koref
Dr John Sayer
Whole-exome analysis of a child with polycystic kidney disease and ventriculomegaly2015
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 Helen Griffin
Dr Angela Pyle
Charlotte Alston
Dr Jennifer Duff
Dr Gavin Hudson
et al.
Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations2014
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
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