Browsing publications by Dr Mauro Santibanez Koref

Newcastle AuthorsTitleYearFull text
Dr Tarana Singh Dang
Dr Joe Willet
Helen Griffin
Dr Graeme O'Boyle
Dr Mario Abinun
et al.
Defective Leukocyte Adhesion and Chemotaxis Contributes to Combined Immunodeficiency in Humans with Autosomal Recessive MST1 Deficiency2016
Ginikachukwu Izuogu
Dr Mauro Santibanez Koref
David Elliott
Dr Michael Jackson
PTESFinder: a computational method to identify post-transcriptional exon shuffling (PTES) events2016
Dr Noel Edwards
Sarah Rice
Dr Ann Marie Hynes
Dr Samir Srivastava
Dr Iain Moore
et al.
A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’2015
Dr Karin Engelhardt
David Swan
Yaobo Xu
Dr Mauro Santibanez Koref
Professor Andrew Cant
et al.
Early-onset lymphoproliferation and autoimmunity caused by germline STAT3 gain-of-function mutations2015
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 Michael Keogh
Dr Hannah Steele
Dr Konstantinos Douroudis
Dr Angela Pyle
Dr Jennifer Duff
et al.
Frequency of rare recessive mutations in unexplained late onset cerebellar ataxia2015
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
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