检索结果 - Lars Tebbe
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Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy 由 Johannes Birtel, Martin Gliem, Elisabeth Mangold, Lars Tebbe, Isabel Spier, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Uwe Wolfrum, Hanno J. Bolz, Peter Charbel Issa
出版 2017Artigo -
2
TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) 由 Louise A. Stephen, Hasan Tawamie, Gemma M. Davis, Lars Tebbe, Peter Nürnberg, Gudrun Nürnberg, Hölger Thiele, Michaela Thoenes, Eugen Boltshauser, Steffen Uebe, Oliver Rompel, André Reis, Arif B. Ekici, Lynn McTeir, Amy M. Fraser, Emma A. Hall, Pleasantine Mill, Nicolas Daudet, C E Cross, Uwe Wolfrum, Rami Abou Jamra, Megan G. Davey, Hanno J. Bolz
出版 2015Artigo -
3
Mutation of<i>POC1B</i>in a Severe Syndromic Retinal Ciliopathy 由 Bodo B. Beck, Jennifer B. Phillips, Malte P. Bartram, Jeremy Wegner, Michaela Thoenes, Andrea Pannes, Josephina Sampson, Raoul Heller, Heike Göbel, Friederike Koerber, Antje Neugebauer, Andrea Hedergott, Gudrun Nürnberg, Peter Nürnberg, Holger Thiele, Janine Altmüller, Mohammad R. Toliat, Simon Staubach, Kym M. Boycott, Enza Maria Valente, Andreas Janecke, Tobias Eisenberger, Carsten Bergmann, Lars Tebbe, Yang Wang, Yun‐Dong Wu, Andrew M. Fry, Monte Westerfield, Uwe Wolfrum, Hanno J. Bolz
出版 2014Artigo -
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KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome 由 Anna A. W. M. Sanders, Erik de Vrieze, Anas M. Alazami, Fatema Alzahrani, Erik B. Malarkey, Nasrin Sorusch, Lars Tebbe, Stefanie Kuhns, Teunis J. P. van Dam, Amal Alhashem, Brahim Tabarki, Qianhao Lu, Nils J. Lambacher, Julie Kennedy, Rachel V. Bowie, Lisette Hetterschijt, Sylvia E. C. van Beersum, Jeroen van Reeuwijk, Karsten Boldt, Hannie Kremer, Robert A. Kesterson, Dorota Monies, Mohamed Abouelhoda, Ronald Roepman, Martijn A. Huynen, Marius Ueffing, Robert B. Russell, Uwe Wolfrum, Bradley K. Yoder, Erwin van Wijk, Fowzan S. Alkuraya, Oliver E. Blacque
出版 2015Artigo
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Biology
Ciliopathy
Gene
Genetics
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Ciliopathies
Cilium
Joubert syndrome
Cell biology
Ciliogenesis
Exome sequencing
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Retinal degeneration
Retinitis pigmentosa
Basal body
Caenorhabditis elegans
Cell cycle
Centrosome
Demography
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Flagellum
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