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Browsing publications by Professor John Sayer

Newcastle AuthorsTitleYearFull text
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
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
Dr Elisa Molinari
Professor John Sayer
Disease modeling to understand the pathomechanisms of human genetic kidney disorders2020
Laura Devlin
Dr Simon Ramsbottom
Lynne Overman
Dr Steven Lisgo
Dr Gavin Clowry
et al.		Embryonic and foetal expression patterns of the ciliopathy gene CEP1642020
Mohamed Al-Hamed
Professor John Sayer
Fetal anomalies associated with novel pathogenic variants in TMEM942020
Dr Simon Ramsbottom
Professor Peter Thelwall
Dr Katrina Wood
Dr Gavin Clowry
Laura Devlin
et al.		Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome2020
Professor John Sayer
Nephrocalcinosis: A Review of Monogenic Causes and Insights They Provide into This Heterogeneous Condition2020
Mohamed Al-Hamed
Professor John Sayer
Novel loss of function variants in FRAS1 AND FREM2 underlie renal agenesis in consanguineous families2020
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