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Human Genetics|February 20, 2019
Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisAli Amar, Amar J Majmundar, Ihsan Ullah, et al.Human Molecular Genetics|February 23, 2010
Uromodulin is expressed in renal primary cilia and UMOD mutations result in decreased ciliary uromodulin expressionFrank Zaucke, Joana M Boehnlein, Sarah Steffens, et al.Kidney International|October 26, 2007
Mutational analysis of the RPGRIP1L gene in patients with Joubert syndrome and nephronophthisisM T F Wolf, S Saunier, J F O'Toole, et al.Cell Reports|August 15, 2019
A CEP104-CSPP1 Complex Is Required for Formation of Primary Cilia Competent in Hedgehog SignalingKari-Anne M Frikstad, Elisa Molinari, Marianne Thoresen, et al.The Journal of Biological Chemistry|May 16, 2012
In vivo, fatty acid translocase (CD36) critically regulates skeletal muscle fuel selection, exercise performance, and training-induced adaptation of fatty acid oxidationJay T McFarlan, Yuko Yoshida, Swati S Jain, et al.The Journal of Clinical Investigation|August 25, 2015
DNA replication stress underlies renal phenotypes in CEP290-associated Joubert syndromeGisela G Slaats, Joshua C Saldivar, Julien Bacal, et al.Journal of Anxiety Disorders|December 15, 2018
Which patients initiate cognitive processing therapy and prolonged exposure in department of veterans affairs PTSD clinics?Craig S Rosen, Nancy C Bernardy, Kathleen M Chard, et al.Clinical Journal of the American Society of Nephrology : CJASN|January 21, 2016
Prevalence of Monogenic Causes in Pediatric Patients with Nephrolithiasis or NephrocalcinosisDaniela Anne Braun, Jennifer Ashley Lawson, Heon Yung Gee, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|February 21, 2025
Global access to management of primary hyperoxaluria: a survey on behalf of OxalEurope, G&K working group of the ERA, and ESPNLisa J Deesker, Laila Oubram, Reham Almardini, et al.Clinical Kidney Journal|July 3, 2026
Primary hyperoxaluria type 1-current practice in the siRNA era: an ERA Genes & Kidney Working Group surveyMalte P Bartram, Giovambattista Capasso, Emilie Cornec-Le Gall, et al.Pageof 52