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Number of items: 5.

Amar, Ali; Majmundar, Amar J; Ullah, Ihsan; Afzal, Ayesha; Braun, Daniela A; Shril, Shirlee; Daga, Ankana; Jobst-Schwan, Tilman; Ahmad, Mumtaz; Sayer, John A; Gee, Heon Yung; Halbritter, Jan; Knöpfel, Thomas; Hernando, Nati; Werner, Andreas; Wagner, Carsten; Khaliq, Shagufta; Hildebrandt, Friedhelm (2019). Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasis. Human Genetics, 138(3):211-219.

Fearn, Amy; Allison, Benjamin; Rice, Sarah J; Edwards, Noel; Halbritter, Jan; Bourgeois, Soline; Pastor-Arroyo, Eva M; Hildebrandt, Friedhelm; Tasic, Velibor; Wagner, Carsten A; Hernando, Nati; Sayer, John A; Werner, Andreas (2018). Clinical, biochemical, and pathophysiological analysis of SLC34A1 mutations. Physiological Reports, 6(12):e13715.

Enerbäck, Sven; Nilsson, Daniel; Edwards, Noel; Heglind, Mikael; Alkanderi, Sumaya; Ashton, Emma; Deeb, Asma; Kokash, Feras E B; Bakhsh, Abdulrahim R A; Van't Hoff, William; Walsh, Stephen B; D'Arco, Felice; Daryadel, Arezoo; Bourgeois, Soline; Wagner, Carsten A; Kleta, Robert; Bockenhauer, Detlef; Sayer, John A (2018). Acidosis and Deafness in Patients with Recessive Mutations in FOXI1. Journal of the American Society of Nephrology (JASN), 29(3):1041-1048.

Darlow, John M; Darlay, Rebecca; Dobson, Mark G; Stewart, Aisling; Charoen, Pimphen; Southgate, Jennifer; Baker, Simon C; Xu, Yaobo; Hunziker, Manuela; Lambert, Heather J; Green, Andrew J; Santibanez-Koref, Mauro; Sayer, John A; Goodship, Timothy H J; Puri, Prem; Woolf, Adrian S; Kenda, Rajko B; Barton, David E; Cordell, Heather J (2018). Publisher Correction: Genome-wide linkage and association study implicates the 10q26 region as a major genetic contributor to primary nonsyndromic vesicoureteric reflux. Scientific Reports, 8(1):459.

Edwards, Noel; Olinger, Eric; Adam, Jennifer; Kelly, Michael; Schiano, Guglielmo; Ramsbottom, Simon A; Sandford, Richard; Devuyst, Olivier; Sayer, John A (2017). A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion. Nephrology, Dialysis, Transplantation, 32(12):1994-1999.

This list was generated on Thu Jul 18 06:58:47 2019 CEST.