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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
Professor John Sayer
PKD1 5’UTR variants are a rare cause of disease in ADPKD and suggest a new focus for therapeutic development2026
Professor John Sayer
Genotype-phenotype correlations and clinical outcomes of genetic TRPC6 podocytopathies2026
Professor John Sayer
Dr Nikola Zagorec
10 tips on how to take a proper family history in CKD patient care2025
Professor John Sayer
A Novel Founder PKHD1 Disease Causing Variant in Israeli Bedouins With Autosomal Recessive Polycystic Kidney Disease2025
Dr Eric Olinger
Miguel Barroso Gil
Ruxandra Neatu
Professor John Sayer
Characterization of the Cystic Phenotype Associated with Monoallelic ALG8 and ALG9 Pathogenic Variants2025
Professor John Sayer
Chronic Kidney Disease of unexplained cause (CKDx): a consensus statement by the Genes & Kidney Working Group of the ERA2025
Professor John Sayer
Clinical Characteristics, Symptoms, and Long-Term Outcomes in Gitelman Syndrome2025
Professor John Sayer
Editorial: Distinct phenotype but same genotype: hints for the diversity of phenotypes in ciliopathies2025
Professor John Sayer
Genomic diversity: meeting the challenge of rare diseases2025
Professor John Sayer
Global access to management of primary hyperoxaluria: A survey on behalf of OxalEurope, G&K Working Group of the ERA and ESPN2025
Dr Holly Mabillard
Professor John Sayer
GLP-1 receptor agonists—another promising therapy for Alport syndrome?2025
Dr Yincent Tse
Nicola Vasey
Dr Rhys Thomas
Dr Suzy Leech
Dr Stephen Owens
et al.		How to use mTOR inhibitors in children2025
Dr Holly Mabillard
Rob Geraghty
Professor John Sayer
Late onset presentation of nephrocalcinosis and nephrolithiasis in association with a heterozygous CYP24A1 pathogenic variant2025
Professor John Sayer
Dr Juliana Arcila Galvis
Mono-allelic pathogenic variants in JAG1 cause autosomal dominant tubulo-interstitial kidney disease (ADTKD-JAG1)2025
Professor John Sayer
Nephrectomy in autosomal dominant polycystic kidney disease: A consensus statement of the ERA Genes & Kidney Working Group2025
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