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Journal Article
Beck, Bodo B., Phillips, Jennifer B., Bartram, Melte P., Wegner, Jeremy, Thoenes, Michaele, Pannes, Andrea, Sampson, Josephina, Heller, Raoul, Goebel, Heike, Koerber, Friederike, Neugebauer, Antje, Hedergott, Andrea, Nuernberg, Gudrun, Nuernberg, Peter, Thiele, Holger, Altmueller, Janine, Toliat, Mohammad R., Staubach, Simon, Boycott, Kym M., Valente, Enza Maria 
ORCID: 0000-0002-0600-6820, Janecke, Andreas R., Eisenberger, Tobias, Bergmann, Carsten, Tebbe, Lars, Wang, Yang, Wu, Yundong, Fry, Andrew M., Westerfield, Monte, Wolfrum, Uwe and Bolz, Hanno J.
(2014).
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy.
Hum. Mutat., 35 (10).
S. 1153 - 1163.
HOBOKEN:
WILEY.
ISSN 1098-1004
Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Mueller, Philipp, Holz, Frank G., Neuhaus, Christine, Wolfrum, Uwe, Bolz, Hanno J. and Issa, Peter Charbel (2017). Novel insights in KIF11-related retinopathy. Invest. Ophthalmol. Vis. Sci., 58 (8). ROCKVILLE: ASSOC RESEARCH VISION OPHTHALMOLOGY INC. ISSN 1552-5783
Birtel, Johannes, Gliem, Martin, Mangold, Elisabeth, Tebbe, Lars, Spier, Isabel, Muller, Philipp L., Holz, Frank G., Neuhaus, Christine, Wolfruni, Uwe, Bolz, Hanno J. and Issa, Peter Charbel ORCID: 0000-0002-0351-6673
(2017).
Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.
Invest. Ophthalmol. Vis. Sci., 58 (10).
S. 3950 - 3960.
ROCKVILLE:
ASSOC RESEARCH VISION OPHTHALMOLOGY INC.
ISSN 1552-5783
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