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Kidney International Reports|September 12, 2022
Refining Kidney Survival in 383 Genetically Characterized Patients With NephronophthisisJens Christian König, Rebeka Karsay, Joachim Gerß, et al.Journal of the American Society of Nephrology : JASN|April 3, 2021
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural DeafnessKarl P Schlingmann, Aparna Renigunta, Ewout J Hoorn, et al.The New England Journal of Medicine|February 18, 2011
Risk HLA-DQA1 and PLA(2)R1 alleles in idiopathic membranous nephropathyHoria C Stanescu, Mauricio Arcos-Burgos, Alan Medlar, et al.Orphanet Journal of Rare Diseases|June 3, 2021
The European Rare Kidney Disease Registry (ERKReg): objectives, design and initial resultsGiulia Bassanese, Tanja Wlodkowski, Aude Servais, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 8, 2018
Child and Parental Perspectives on Communication and Decision Making in Pediatric CKD: A Focus Group StudyTalia Gutman, Camilla S Hanson, Sarah Bernays, et al.Journal of the American Society of Nephrology : JASN|October 5, 2021
Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNADaan Viering, Karl P Schlingmann, Marguerite Hureaux, et al.Journal of the American Society of Nephrology : JASN|July 3, 2019
Genetic Identification of Two Novel Loci Associated with Steroid-Sensitive Nephrotic SyndromeStephanie Dufek, Chris Cheshire, Adam P Levine, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|July 14, 2020
Developing Consensus-Based Outcome Domains for Trials in Children and Adolescents With CKD: An International Delphi SurveyCharlotte Logeman, Chandana Guha, Martin Howell, et al.Human Mutation|June 18, 2010
Mutations in the human laminin beta2 (LAMB2) gene and the associated phenotypic spectrumVerena Matejas, Bernward Hinkes, Faisal Alkandari, et al.American Journal of Human Genetics|November 5, 2013
Mutations in the gene encoding IFT dynein complex component WDR34 cause Jeune asphyxiating thoracic dystrophyMiriam Schmidts, Julia Vodopiutz, Sonia Christou-Savina, et al.Pageof 20