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Browsing publications by Dr Holly Mabillard.

Newcastle AuthorsTitleYearFull text
Dr Holly Mabillard
Dr Eric Olinger
Professor John Sayer
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease2023
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease2023
Dr Eric Olinger
Sarah Orr
Dr Holly Mabillard
Dr Yincent Tse
Dr Katrina Wood
et al.
Biallelic variants in TTC21B as a rare cause of early-onset arterial hypertension and tubuloglomerular kidney disease2022
Professor John Sayer
Dr Holly Mabillard
Dr Hilary Tedd
Dr Nigel Speight
Dr Christopher Duncan
et al.
Case Report: Renal potassium wasting in SARS-CoV-2 infection2020
Dr Holly Mabillard
Professor John Sayer
Electrolyte Disturbances in SARS-CoV-2 Infection2020
Dr Holly Mabillard
Professor John Sayer
SGLT2 inhibitors - a potential treatment for Alport syndrome2020
Dr Holly Mabillard
Professor John Sayer
The Molecular Genetics of Gordon Syndrome2019
Dr Elisa Molinari
Dr Holly Mabillard
Dr Shalabh Srivastava
Dr Katrina Wood
Sumaya Alkanderi
et al.
Human urine-derived renal epithelial cells provide insights into kidney-specific alternate splicing variants2018
Dr Holly Mabillard
Dr Charlie Tomson
Investigation and management of renal stone disease2017
Dr Holly Mabillard
Dr Shalabh Srivastava
Professor John Sayer
Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease2017