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Browsing publications by Dr Noel Edwards

Newcastle AuthorsTitleYearFull text
Dr Noel Edwards
Dr Simon Ramsbottom
Professor John Sayer
A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion2017
Dr Noel Edwards
Professor John Sayer
Genetic spectrum of Saudi Arabian patients with antenatal cystic kidney disease and ciliopathy phenotypes using a targeted renal gene panel2016
Dr Noel Edwards
Professor John Sayer
Glanzmann thrombasthenia in Pakistan: molecular analysis and identification of novel mutations2016
Dr Noel Edwards
Dr Sarah Rice
Dr Ann Marie Hynes
Dr Samir Srivastava
Dr Iain Moore
et al.
A novel LMX1B mutation in a family with end-stage renal disease of ‘unknown cause’2015
Dr Sarah Rice
Dr Noel Edwards
Dr Alice Hartley
Professor David Thwaites
Professor John Sayer
et al.
Clinical and genetic analysis of patients with cystinuria in the UK2015
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Professor David Thwaites
The Effect of a Novel rBAT Mutation on the Expression and Function of System b(o,+)2015
Dr Sarah Rice
Dr Noel Edwards
Professor John Sayer
Professor David Thwaites
The novel rBAT mutation Y579D and activity of the amino acid transporter System b0,+2015
Nichola Conlon
Dr Noel Edwards
Dr Timothy Cheek
Professor David Thwaites
Rheogenic amino acid transport by Drosophila CG4991 of the Amino Acid Auxin Permease (AAAP) transporter family2013
Dr Noel Edwards
David Thomas
Professor John Sayer
Clinical analysis of a north-east England cystinuria cohort2012