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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
2019
Frank, Derk, Rangrez, Ashraf Yusuf, Friedrich, Corinna, Dittmann, Sven, Stallmeyer, Birgit, Yadav, Pankaj ORCID: 0000-0001-7160-9209, Bernt, Alexander, Borlepawar, Ellen Schulze-Bahr Ankush, Zimmermann, Wolfram-Hubertus, Peischard, Stefan, Seebohm, Guiscard, Linke, Wolfgang A., Baba, Hideo A., Krueger, Marcus ORCID: 0000-0003-2008-4582, Unger, Andreas, Usinger, Philip, Frey, Norbert ORCID: 0000-0001-7611-378X and Schulze-Bahr, Eric
(2019).
Cardiac alpha-Actin (ACTC1) Gene Mutation Causes Atrial-Septal Defects Associated With Late-Onset Dilated Cardiomyopathy.
Circ.-Genom. Precis. Med., 12 (8).
PHILADELPHIA:
LIPPINCOTT WILLIAMS & WILKINS.
ISSN 1942-325X