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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Becky Dewhurst
Dr Elisa Molinari
Professor John Sayer
Cell preservation methods and its application to studying rare disease2021
Miguel Barroso Gil
Dr Eric Olinger
Dr Simon Ramsbottom
Dr Elisa Molinari
Dr Colin Miles
et al.
Update of genetic variants in CEP120 and CC2D2A—With an emphasis on genotype-phenotype correlations, tissue specific transcripts and exploring mutation specific exon skipping therapies2021
Dr Rob Geraghty
Dr Eric Olinger
Professor John Sayer
Whole exome sequencing of large populations: identification of loss of function alleles and implications for inherited kidney diseases2021
Professor John Sayer
Are conventional stone analysis techniques reliable for the identification of 2,8-dihydroxyadenine kidney stones? A case series2020
Sumaya Alkanderi
Professor John Sayer
Biallelic CYP24A1 variants presenting during pregnancy: Clinical and biochemical phenotypes2020
Dr Rob Geraghty
Dr Katrina Wood
Professor John Sayer
Calcium oxalate crystal deposition in the kidney: identification, causes and consequences2020
Professor John Sayer
Holly Mabillard
Dr Hilary Tedd
Dr Nigel Speight
Dr Christopher Duncan
et al.
Case Report: Renal potassium wasting in SARS-CoV-2 infection2020
Intisar Al Alawi
Dr Elisa Molinari
Professor John Sayer
Clinical and genetic characteristics of autosomal recessive polycystic kidney disease in Oman2020
Professor John Sayer
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease due to mutations in UMOD and MUC12020
Professor John Sayer
Cystinuria: clinical practice recommendation2020
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