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The Journal of Biological Chemistry|August 17, 2018
The nucleoside-diphosphate kinase NME3 associates with nephronophthisis proteins and is required for ciliary function during renal developmentSylvia Hoff, Daniel Epting, Nathalie Falk, et al.Human Genetics|April 6, 2013
Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathyJan Halbritter, Jonathan D Porath, Katrina A Diaz, et al.Heart (British Cardiac Society)|April 9, 2016
The value of ECG parameters as markers of treatment response in Fabry cardiomyopathyChristian Schmied, Albina Nowak, Christiane Gruner, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|December 28, 2024
Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140Nikola Zagorec, Alizée Calamel, Margaux Delaporte, et al.Kidney International|April 28, 2019
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal diseaseIsabel Ottlewski, Johannes Münch, Timo Wagner, et al.Disease Models & Mechanisms|March 23, 2017
A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stressSian E Piret, Eric Olinger, Anita A C Reed, et al.Journal of the American Society of Nephrology : JASN|May 24, 2020
A Deregulated Stress Response Underlies Distinct INF2-Associated Disease ProfilesSamet Bayraktar, Julian Nehrig, Ekaterina Menis, et al.Pharmacogenomics|August 12, 2011
Role of genetic variation in the human sodium-glucose cotransporter 2 gene (SGLT2) in glucose homeostasisUta Enigk, Jana Breitfeld, Dorit Schleinitz, et al.Journal of Endourology|October 13, 2023
Routine Urinary Biochemistry Does Not Accurately Predict Stone Type Nor Recurrence in Kidney Stone Formers: A Multicentre, Multimodel, Externally Validated Machine-Learning StudyRobert M Geraghty, Ian Wilson, Eric Olinger, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|August 27, 2025
CAKUT subtypes determine the rate of progression to kidney failure - an adult patient cohort studyCharlotte Hammett, Friederike Petzold, Sarah Stopp, et al.Pageof 17