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Journal Article
Ekici, Arif B., Hackenbeck, Thomas, Moriniere, Vincent ORCID: 0000-0003-1795-222X, Panness, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B.
ORCID: 0000-0001-7175-5062, Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, Andre
ORCID: 0000-0002-6301-6363, Eckardt, Kai-Uwe and Wiesener, Michael S.
(2014).
Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin.
Kidney Int., 86 (3).
S. 589 - 600.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755
Stephen, Louise A., Tawamie, Hasan, Davis, Gemma M., Tebbe, Lars, Nuernberg, Peter, Nuernberg, Gudrun, Thiele, Holger, Thoenes, Michaela, Boltshauser, Eugen, Uebe, Steffen, Rompel, Oliver, Reis, Andre ORCID: 0000-0002-6301-6363, Ekici, Arif B., McTeir, Lynn, Fraser, Amy M., Hall, Emma A., Mill, Pleasantine
ORCID: 0000-0001-5218-134X, Daudet, Nicolas
ORCID: 0000-0002-4039-4716, Cross, Courtney
ORCID: 0000-0001-5345-9614, Wolfrum, Uwe, Abou Jamra, Rami, Davey, Megan G. and Bolz, Hanno J.
(2015).
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23).
eLife, 4.
CAMBRIDGE:
ELIFE SCIENCES PUBLICATIONS LTD.
ISSN 2050-084X
Wopperer, Florian J., Knaup, Karl X., Stanzick, Kira J., Schneider, Karen, Jobst-Schwan, Tilman, Ekici, Arif B., Uebe, Steffen, Wenzel, Andrea, Schliep, Stefan, Schuerfeld, Carsten, Seitz, Randolf, Bernhardt, Wanja, Goedel, Markus, Wiesener, Antje, Popp, Bernt ORCID: 0000-0002-3679-1081, Stark, Klaus J., Groene, Hermann-Josef, Friedrich, Bjoern, Weiss, Martin, Basic-Jukic, Nikolina
ORCID: 0000-0002-0221-2758, Schiffer, Mario, Schroeppel, Bernd, Huettel, Bruno, Beck, Bodo B., Sayer, John A., Ziegler, Christine, Buettner-Herold, Maike, Amann, Kerstin, Heid, Iris M., Reis, Andre, Pasutto, Francesca and Wiesener, Michael S.
(2022).
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseases.
Kidney Int., 102 (2).
S. 405 - 421.
NEW YORK:
ELSEVIER SCIENCE INC.
ISSN 1523-1755