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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
Professor Patrick Chinnery
Germline selection shapes human mitochondrial DNA diversity2019
Dr Jamie Willows
Professor John Sayer
Seasonal hypercalcaemia; consider CYP24A1 mutation2019
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