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Browsing publications by
Dr Holly Mabillard.
Newcastle Authors
Title
Year
Full text
Dr Sally Johnson
Professor David Kavanagh
Professor John Sayer
Dr Edwin Wong
Megan Bates
et al.
Description and Cross-Sectional Analyses of 25,880 Adults and Children in the UK National Registry of Rare Kidney Diseases Cohort
2024
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 disease
2023
Dr Holly Mabillard
Professor John Sayer
Dr Eric Olinger
Clinical and genetic spectra of autosomal dominant tubulointerstitial kidney disease
2023
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 disease
2022
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 infection
2020
Dr Holly Mabillard
Professor John Sayer
Electrolyte Disturbances in SARS-CoV-2 Infection
2020
Dr Holly Mabillard
Professor John Sayer
SGLT
2
inhibitors - a potential treatment for Alport syndrome
2020
Dr Holly Mabillard
Professor John Sayer
The Molecular Genetics of Gordon Syndrome
2019
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 variants
2018
Dr Holly Mabillard
Dr Charlie Tomson
Investigation and management of renal stone disease
2017
Dr Holly Mabillard
Dr Shalabh Srivastava
Professor John Sayer
Large Retroperitoneal Haemorrhage Following Cyst Rupture in a Patient with Autosomal Dominant Polycystic Kidney Disease
2017