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2021
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
2018
van der Wijst, Jenny ORCID: 0000-0002-1547-516X, Konrad, Martin, Verkaart, Sjoerd A. J., Tkaczyk, Marcin ORCID: 0000-0003-1753-7560, Latta, Femke, Altmueller, Janine, Thieled, Holger, Beck, Bodo, Schlingmann, Karl Peter and de Baaij, Jeroen H. F.
(2018).
A de novo KCNA1 Mutation in a Patient with Tetany and Hypomagnesemia.
Nephron, 139 (4).
S. 359 - 367.
BASEL:
KARGER.
ISSN 2235-3186
2014
Arjona, Francisco J., de Baaij, Jeroen H. F., Schlingmann, Karl P., Lameris, Anke L. L., van Wijk, Erwin, Flik, Gert ORCID: 0000-0001-9285-7957, Regele, Sabrina, Korenke, G. Christoph, Neophytou, Birgit, Rust, Stephan, Reintjes, Nadine, Konrad, Martin, Bindels, Rene J. M. and Hoenderop, Joost G. J.
(2014).
CNNM2 Mutations Cause Impaired Brain Development and Seizures in Patients with.
PLoS Genet., 10 (4).
SAN FRANCISCO:
PUBLIC LIBRARY SCIENCE.
ISSN 1553-7404