Universität zu Köln

Journal Article

Neirijnck, Yasmine ORCID: 0000-0001-7236-8451, Reginensi, Antoine, Renkema, Kirsten Y., Massa, Filippo, Kozlov, Vladimir M., Dhib, Haroun, Bongers, Ernie M. H. F., Feitz, Wout F., van Eerde, Albertien M. ORCID: 0000-0001-5953-5956, Lefebvre, Veronique, Knoers, Nine V. A. M., Tabatabaei, Mansoureh, Schulz, Herbert, McNeill, Helen ORCID: 0000-0003-1126-5154, Schaefer, Franz, Wegner, Michael, Sock, Elisabeth ORCID: 0000-0001-9925-3136 and Schedl, Andreas ORCID: 0000-0001-9380-7396 (2018). Sox11 gene disruption causes congenital anomalies of the kidney and urinary tract (CAKUT). Kidney Int., 93 (5). S. 1142 - 1154. NEW YORK: ELSEVIER SCIENCE INC. ISSN 1523-1755

Schlingmann, Karl P., Jouret, Francois, Shen, Kuang, Nigam, Anukrati, Arjona, Francisco J., Dafinger, Claudia, Houillier, Pascal, Jones, Deborah P., Kleinerueschkamp, Felix, Oh, Jun, Godefroid, Nathalie, Eltan, Mehmet, Guran, Tulay, Burtey, Stephane, Parotte, Marie-Christine, Koenig, Jens, Braun, Alina, Bos, Caro ORCID: 0000-0001-5016-9435, Serra, Maria Ibars, Rehmann, Holger, Zwartkruis, Fried J. T., Renkema, Kirsten Y., Klingel, Karin, Schulze-Bahr, Eric, Schermer, Bernhard, Bergmann, Carsten, Altmueller, Janine, Thiele, Holger, Beck, Bodo B., Dahan, Karin, Sabatini, David, Liebau, Max C., Vargas-Poussou, Rosa, Knoers, Nine V. A. M., Konrad, Martin and de Baaij, Jeroen H. F. (2021). mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J. Am. Soc. Nephrol., 32 (11). S. 2885 - 2900. WASHINGTON: AMER SOC NEPHROLOGY. ISSN 1533-3450