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Displaying 2 results.

- Journal article
Simultaneous sequencing of 37 genes identified causative mutations in the majority of children with renal tubulopathies
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[UCL] Rotthier, Annelies Del Favero, Jurgen Devuyst, Olivier[UCL] Schaefer, Franz Jenkins, Lucy A. Kleta, Robert Dahan, Karin[UCL] Vargas-Poussou, Rosa Bockenhauer, Detlef (2018) Kidney international — Vol. 93, no. 4, p. 961-967 (2018)
- Journal article
High-throughput sequencing contributes to the diagnosis of tubulopathies and familial hypercalcemia hypocalciuria in adults
Hureaux, Marguerite Ashton, Emma Dahan, Karin[UCL] Houillier, Pascal Blanchard, Anne Cormier, Catherine Koumakis, Eugenie Iancu, Daniela Belge, Hendrica Hilbert, Pascale Rotthier, Annelies Del Favero, Jurgen Schaefer, Franz Kleta, Robert Bockenhauer, Detlef Jeunemaitre, Xavier Devuyst, Olivier[UCL] Walsh, Stephen B. Vargas-Poussou, Rosa (2019) Kidney International — Vol. 96, no. 6, p. 1408-1416 (2019)