Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies

Author:

Ashton Emma J.,Legrand Anne,Benoit Valerie,Roncelin Isabelle,Venisse Annabelle,Zennaro Maria-Christina,Jeunemaitre Xavier,Iancu Daniela,van’t Hoff William G.,Walsh Stephen B.,Godefroid Nathalie,Rotthier Annelies,Del Favero Jurgen,Devuyst Olivier,Schaefer Franz,Jenkins Lucy A.,Kleta Robert,Dahan Karin,Vargas-Poussou Rosa,Bockenhauer Detlef

Publisher

Elsevier BV

Subject

Nephrology

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1. Molecular biology, genetic, and epigenetics of kidney disease;Genetics and Epigenetics of Genitourinary Diseases;2025

2. Distal renal tubular acidosis and WDR72: some answers, more questions;Pediatric Nephrology;2024-09-05

3. Renal proximal tubules are sensitive to metabolic acidosis;2024-08-19

4. Genetics of Chronic Kidney Disease;New England Journal of Medicine;2024-08-15

5. The Role of Genetic Testing in Adult CKD;Journal of the American Society of Nephrology;2024-05-06

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