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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Andrew Browning
Dr Gustavo Figueiredo
Dr Oliver Baylis
Dr Emma Montgomery
Dr Elisa Molinari
et al.		A case of ocular cystinosis associated with two potentially severe CTNS mutations2019
Dr Elisa Molinari
Dr Simon Ramsbottom
Professor John Sayer
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog Signaling2019
Dr Jamie Willows
Dr Katrina Wood
Dr Helen Bourne
Professor John Sayer
Acquired C1-inhibitor deficiency presenting with nephrotic syndrome2019
Mohamed Al-Hamed
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families2019
Dr Jamie Willows
Dr Noel Edwards
Dr Sarah Rice
Professor John Sayer
Case Report: Investigation and molecular genetic diagnosis of familial hypomagnesaemia: a case report 2019
Professor John Sayer
CYP2AA1 mutations and hypervitaminosis D2019
Professor John Sayer
Dr Andreas Werner
Evaluating pathogenicity of SLC34A3-Ser192Leu, a frequent European missense variant in disorders of renal phosphate wasting2019
Professor John Sayer
Dr Andreas Werner
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis2019
Dr Paul Brennan
Professor John Sayer
Dr Kevin Marchbank
Professor Patrick Chinnery
Germline selection shapes human mitochondrial DNA diversity2019
Professor John Sayer
Healthcare recommendations for Joubert syndrome2019
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