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Molecular Genetics & Genomic Medicine|April 3, 2021
Founder mutation in the PMM2 promotor causes hyperinsulinemic hypoglycaemia/polycystic kidney disease (HIPKD)Sumaya Islam, Mehmet Tekman, Sarah E Flanagan, et al.Pediatric Nephrology (Berlin, Germany)|November 22, 2011
Growth in PHEX-associated X-linked hypophosphatemic rickets: the importance of early treatmentCatherine Quinlan, Katie Guegan, Amaka Offiah, et al.Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association|March 7, 2012
The enzyme 4-hydroxy-2-oxoglutarate aldolase is deficient in primary hyperoxaluria type 3Emma L Williams, Detlef Bockenhauer, William G van't Hoff, et al.Human Molecular Genetics|October 11, 2019
Functional assessment of variants associated with Wolfram syndromeMelissa Riachi, Sebahat Yilmaz, Erdal Kurnaz, et al.European Journal of Pediatrics|May 5, 2019
Tolvaptan use in children and adolescents with autosomal dominant polycystic kidney disease: rationale and design of a two-part, randomized, double-blind, placebo-controlled trialFranz Schaefer, Djalila Mekahli, Francesco Emma, et al.Pediatric Nephrology (Berlin, Germany)|May 21, 2011
Sotos syndrome, infantile hypercalcemia, and nephrocalcinosis: a contiguous gene syndromeJoanna Kenny, Melissa M Lees, Susan Drury, et al.European Journal of Human Genetics : EJHG|May 30, 2020
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working groupBeata Stefania Lipska-Ziętkiewicz, Fatih Ozaltin, Tuula Hölttä, et al.Nephron. Physiology|August 19, 2011
Familial autosomal recessive renal tubular acidosis: importance of early diagnosisAsaf Vivante, Danny Lotan, Naomi Pode-Shakked, et al.Journal of Hypertension|September 5, 2020
Genetics of renovascular hypertension in childrenDaan H H M Viering, Melanie M Y Chan, Lieke Hoogenboom, et al.Kidney International Reports|September 14, 2019
HNF1B Mutations Are Associated With a Gitelman-like Tubulopathy That Develops During ChildhoodShazia Adalat, Wesley N Hayes, William A Bryant, et al.Pageof 20