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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Dr Shalabh Srivastava
Dr Simon Ramsbottom
Dr Elisa Molinari
Sumaya Alkanderi
Dr Andrew Filby
et al.
A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies2017
Dr Noel Edwards
Dr Simon Ramsbottom
Professor John Sayer
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion2017
Professor John Sayer
Case Report: Making a diagnosis of familial renal disease - clinical and patient perspectives2017
Intisar Al Alawi
Professor John Sayer
End-Stage Kidney Failure in Oman: An Analysis of Registry Data with an Emphasis on Congenital and Inherited Renal Diseases2017
Dr Elisa Molinari
Dr Shalabh Srivastava
Professor John Sayer
Dr Simon Ramsbottom
From disease modelling to personalised therapy in patients with CEP290 mutations2017
Sumaya Alkanderi
Dr Laura Yates
Dr Sally Johnson
Professor John Sayer
Lessons learned from a multidisciplinary renal genetics clinic2017
Dr Jennifer Duff
Professor Neil Sheerin
Professor John Sayer
Dr Gavin Hudson
Professor Patrick Chinnery
et al.
Mutations in mitochondrial DNA causing tubulointerstitial kidney disease2017
Professor John Sayer
Progress in Understanding the Genetics of Calcium-Containing Nephrolithiasis2017
Professor John Sayer
Dr David Price
Dr Brendan Payne
TDF associated renal tubular dysfunction: non-invasive assessment of mitochondrial injury2017
Professor John Sayer
Case Report: Cervical chondrocalcinosis as a complication of Gitelman syndrome [version 1; referees: 3 approved]2016
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