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Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|April 29, 2021
Distal renal tubular acidosis: ERKNet/ESPN clinical practice pointsFrancesco Trepiccione, Steven B Walsh, Gema Ariceta, et al.Developmental Medicine and Child Neurology|August 9, 2013
Neurological features of epilepsy, ataxia, sensorineural deafness, tubulopathy syndromeJ Helen Cross, Ruchi Arora, Rolf A Heckemann, et al.Plos One|August 23, 2011
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletionsDalia Kasperavičiūtė, Claudia B Catarino, Krishna Chinthapalli, et al.Journal of the American Society of Nephrology : JASN|February 23, 2013
Phospholipase A2 receptor (PLA2R1) sequence variants in idiopathic membranous nephropathyMarieke J H Coenen, Julia M Hofstra, Hanna Debiec, et al.Pediatric Nephrology (Berlin, Germany)|November 10, 2022
Shared genetic risk across different presentations of gene test-negative idiopathic nephrotic syndromeMallory L Downie, Sanjana Gupta, Melanie M Y Chan, et al.Nephron. Physiology|November 7, 2013
KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16Sophie Parrock, Sofia Hussain, Naomi Issler, et al.Nature Reviews. Nephrology|May 10, 2019
Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemiaDieter Haffner, Francesco Emma, Deborah M Eastwood, et al.Trials|April 29, 2014
Short course daily prednisolone therapy during an upper respiratory tract infection in children with relapsing steroid-sensitive nephrotic syndrome (PREDNOS 2): protocol for a randomised controlled trialNicholas J A Webb, Emma Frew, Elizabeth A Brettell, et al.Journal of the American Society of Nephrology : JASN|December 16, 2017
Acidosis and Deafness in Patients with Recessive Mutations in FOXI1Sven Enerbäck, Daniel Nilsson, Noel Edwards, et al.Journal of Inherited Metabolic Disease|September 18, 2022
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort studyKoenraad Veys, Ward Zadora, Katharina Hohenfellner, et al.Pageof 20