Search Results - Michaela Thoenes

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  1. 1
    Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

    Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation by Maha S. Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz

    Published 2017
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  2. 2
    The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

    The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration by Ghada M. H. Abdel‐Salam, Michaela Thoenes, Hanan H. Afifi, Friederike Körber, Daniel Swan, Hanno J. Bolz

    Published 2014
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  3. 3
    OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67)

    OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67) by Michaela Thoenes, Ulrike Zimmermann, Inga Ebermann, M. Ptok, Morag A. Lewis, Hölger Thiele, Susanne Morlot, Markus Heß, Andreas Gal, Tobias Eisenberger, Carsten Bergmann, Gudrun Nürnberg, Peter Nürnberg, Karen P. Steel, Marlies Knipper, Hanno J. Bolz

    Published 2015
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  4. 4
    PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

    PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly by Maha S. Zaki, Raoul Heller, Michaela Thoenes, Gudrun Nürnberg, Gabi Stern-Schneider, Peter Nürnberg, Srikanth Karnati, Daniel Swan, Ekram Fateen, Kerstin Nagel‐Wolfrum, Mostafa I. Mostafa, Hölger Thiele, Uwe Wolfrum, Eveline Baumgart‐Vogt, Hanno J. Bolz

    Published 2015
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  5. 5
    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

    TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23) by 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

    Published 2015
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  6. 6
    Mutation of<i>POC1B</i>in a Severe Syndromic Retinal Ciliopathy

    Mutation of<i>POC1B</i>in a Severe Syndromic Retinal Ciliopathy by 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

    Published 2014
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  7. 7
    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2

    Mutation Update for Kabuki Syndrome Genes<i>KMT2D</i>and<i>KDM6A</i>and Further Delineation of X-Linked Kabuki Syndrome Subtype 2 by Nina Bögershausen, Vincent Gâtinois, Vera Riehmer, Hülya Kayserili, Jutta Becker, Michaela Thoenes, Pelin Özlem Şimşek‐Kiper, Mouna Barat‐Houari, Nursel Elçioğlu, Dagmar Wieczorek, Sigrid Tinschert, Guillaume Sarrabay, Tim M. Strom, Aurélie Fabre, Gareth Baynam, Elodie Sanchez, Gudrun Nürnberg, Umut Altunoğlu, Yline Capri, Bertrand Isidor, Didier Lacombe, Carole Corsini, Valérie Cormier‐Daire, Damien Sanlaville, Fabienne Giuliano, Kim‐Hanh Le Quan Sang, Honorine Kayirangwa, Peter Nürnberg, Thomas Meitinger, Koray Boduroğlu, Barbara Zoll, Stanislas Lyonnet, Andreas Tzschach, Alain Verloès, Nataliya Di Donato, Isabelle Touitou, Christian Netzer, Yun Li, David Geneviève, Gökhan Yigit, Bernd Wollnik

    Published 2016
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