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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
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
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
Sumaya Alkanderi
Dr Elisa Molinari
Veronica Sammut
Dr Simon Ramsbottom
Dr Shalabh Srivastava
et al.
ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition2018
Dr Noel Edwards
Sumaya Alkanderi
Professor John Sayer
Acidosis and Deafness in Patients with Recessive Mutations in FOXI12018
Dr Amy Fearn
Ben Allison
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
et al.
Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations2018
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