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List of works by Sarah J Rice

A novel LMX1B mutation in a family with end-stage renal disease of 'unknown cause'.

scientific article published on 5 December 2014

ARL3 Mutations Cause Joubert Syndrome by Disrupting Ciliary Protein Composition

scientific article published on 27 September 2018

Bialleleic PKD1 mutations underlie early-onset autosomal dominant polycystic kidney disease in Saudi Arabian families

scientific article published on 11 May 2019

Clinical and genetic analysis of patients with cystinuria in the United Kingdom.

scientific article published on 11 May 2015

Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations.

scientific article published in June 2018

Discovery and analysis of methylation quantitative trait loci (mQTLs) mapping to novel osteoarthritis genetic risk signals

scientific article published on 05 June 2019

Esomeprazole Increases Airway Surface Liquid pH in Primary Cystic Fibrosis Epithelial Cells

scientific article published on 11 December 2018

Fourteen monogenic genes account for 15% of nephrolithiasis/nephrocalcinosis.

scientific article

Identification of a novel, methylation-dependent, RUNX2 regulatory region associated with osteoarthritis risk

scientific article published on 01 October 2018

Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci

scientific article published on 27 June 2019

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