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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Dr Noel Edwards
Sumaya Alkanderi
Professor John Sayer
Acidosis and Deafness in Patients with Recessive Mutations in FOXI12018
Professor John Sayer
Editorial Comment2018
Dr Shalabh Srivastava
Dr Elisa Molinari
Professor John Sayer
Many genes-one disease? Genetics of nephronophthisis (NPHP) and NPHP-associated disorders2018
Professor John Sayer
Whole exome sequencing frequently detects a monogenic cause in early onset nephrolithiasis and nephrocalcinosis2018
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
Dr Elisa Molinari
Professor John Sayer
Emerging treatments and personalised medicine for ciliopathies associated with cystic kidney disease2017
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
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