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Renal fibrosis is the common feature of autosomal dominant tubulointerstitial kidney diseases caused by mutations in mucin 1 or uromodulin
Ekici, Arif B., Hackenbeck, Thomas, Morinière, Vincent, Pannes, Andrea, Buettner, Maike, Uebe, Steffen, Janka, Rolf, Wiesener, Antje, Hermann, Ingo, Grupp, Sina, Hornberger, Martin, Huber, Tobias B., Isbel, Nikky, Mangos, George, McGinn, Stella, Soreth-Rieke, Daniela, Beck, Bodo B., Uder, Michael, Amann, Kerstin, Antignac, Corinne, Reis, André, Eckardt, Kai-Uwe, Wiesener, Michael S.
Published in Kidney international (01.09.2014)
Published in Kidney international (01.09.2014)
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Journal Article
A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype
Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B.
Published in PloS one (04.10.2013)
Published in PloS one (04.10.2013)
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Journal Article
Discordant Clinical Course of Vitamin-D-Hydroxylase (CYP24A1) Associated Hypercalcemia in Two Adult Brothers With Nephrocalcinosis
Jobst-Schwan, Tilman, Pannes, Andrea, Schlingmann, Karl Peter, Eckardt, Kai-Uwe, Beck, Bodo B., Wiesener, Michael S.
Published in Kidney & blood pressure research (01.01.2015)
Published in Kidney & blood pressure research (01.01.2015)
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Journal Article
Autosomal Dominant Mutation in the Signal Peptide of Renin in a Kindred With Anemia, Hyperuricemia, and CKD
Beck, Bodo B., Trachtman, Howard, Gitman, Michael, Miller, Ilene, Sayer, John A., Pannes, Andrea, Baasner, Anne, Hildebrandt, Friedhelm, Wolf, Matthias T.F.
Published in American journal of kidney diseases (01.11.2011)
Published in American journal of kidney diseases (01.11.2011)
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Journal Article
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy
Beck, Bodo B., Phillips, Jennifer B., Bartram, Malte P., Wegner, Jeremy, Thoenes, Michaela, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Göbel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nürnberg, Gudrun, Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe, Bolz, Hanno J.
Published in Human mutation (01.10.2014)
Published in Human mutation (01.10.2014)
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Journal Article