Suchergebnisse - Hanno J. Bolz

Treffer weiter einschränken
  1. 1
    Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

    Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels von Jörg Striessnig, Hanno J. Bolz, Alexandra Koschak

    Veröffentlicht 2010
    Volltext Volltext
    Revisão
    Zu den Favoriten
    Gespeichert in:
  2. 2
    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 von Maha S. Zaki, Michaela Thoenes, Amit Kawalia, Peter Nürnberg, Rolf Kaiser, Raoul Heller, Hanno J. Bolz

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  3. 3
    Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene

    Characterisation of severe rod-cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene von Peter Charbel Issa, Hanno J. Bolz, Inga Ebermann, E. Domeier, Frank G. Holz, Hendrik P. N. Scholl

    Veröffentlicht 2009
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  4. 4
    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 von Ghada M. H. Abdel‐Salam, Michaela Thoenes, Hanan H. Afifi, Friederike Körber, Daniel Swan, Hanno J. Bolz

    Veröffentlicht 2014
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  5. 5
    Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†

    Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa† von Bastian Linder, Holger Dill, Anja Hirmer, Jan Brocher, Gek Lee, Sinnakaruppan Mathavan, Hanno J. Bolz, Christoph Winkler, Bernhard Laggerbauer, Utz Fischer

    Veröffentlicht 2010
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  6. 6
    Role of Sphingosine-1-Phosphate Phosphohydrolase 1 in the Regulation of Resistance Artery Tone

    Role of Sphingosine-1-Phosphate Phosphohydrolase 1 in the Regulation of Resistance Artery Tone von Bernhard Friedrich Peter, Darcy Lidington, Aki Harada, Hanno J. Bolz, Lukas Vogel, Scott P. Heximer, Sarah Spiegel, Ulrich Pohl, Steffen‐Sebastian Bolz

    Veröffentlicht 2008
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  7. 7
    A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

    A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula von Arif O. Khan, Elvir Bećirović, Christian Betz, Christine Neuhaus, Janine Altmüller, Lisa Maria Riedmayr, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Hanno J. Bolz

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  8. 8
    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

    Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3 von Tobias Eisenberger, Rima Slim, Ahmad M. Mansour, Markus Nauck, Gudrun Nürnberg, Peter Nürnberg, Christian Decker, Claudia Dafinger, Inga Ebermann, Carsten Bergmann, Hanno J. Bolz

    Veröffentlicht 2012
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  9. 9
    Truncating mutation of the<i>DFNB59</i>gene causes cochlear hearing impairment and central vestibular dysfunction

    Truncating mutation of the<i>DFNB59</i>gene causes cochlear hearing impairment and central vestibular dysfunction von Inga Ebermann, Martin Walger, Hendrik P. N. Scholl, Peter Charbel Issa, Christoph Lüke, Gudrun Nürnberg, Ruth Lang‐Roth, Christian Becker, Peter Nürnberg, Hanno J. Bolz

    Veröffentlicht 2007
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  10. 10
    Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy

    Novel Insights Into the Phenotypical Spectrum of <i>KIF11</i>-Associated Retinopathy, Including a New Form of Retinal Ciliopathy von 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

    Veröffentlicht 2017
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  11. 11
    Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing

    Mutations in the Prostaglandin Transporter SLCO2A1 Cause Primary Hypertrophic Osteoarthropathy with Digital Clubbing von Jutta Busch, Valeska Frank, Nadine Bachmann, Atoshi Otsuka, Vinzenz Oji, Dieter Metze, Krati Shah, Sumita Danda, Bernhard Watzer, Heiko Traupe, Hanno J. Bolz, Kenji Kabashima, Carsten Bergmann

    Veröffentlicht 2012
    Volltext Volltext
    Carta
    Zu den Favoriten
    Gespeichert in:
  12. 12
    Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

    Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa von Johannes Birtel, Martin Gliem, Elisabeth Mangold, Philipp L. Müller, Frank G. Holz, Christine Neuhaus, Steffen Lenzner, Diana Zahnleiter, Christian Betz, Tobias Eisenberger, Hanno J. Bolz, Peter Charbel Issa

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  13. 13
    Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

    Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy von Johannes Birtel, Tobias Eisenberger, Martin Gliem, Philipp L. Müller, Philipp Herrmann, Christian Betz, Diana Zahnleiter, Christine Neuhaus, Steffen Lenzner, Frank G. Holz, Elisabeth Mangold, Hanno J. Bolz, Peter Charbel Issa

    Veröffentlicht 2018
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  14. 14
    An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

    An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease von Tobias Eisenberger, Christian Decker, Milan Hiersche, Ruben C. Hamann, Eva L. Decker, Steffen Neuber, Valeska Frank, Hanno J. Bolz, Henry Fehrenbach, Lars Pape, Burkhard Toenshoff, Christoph J. Mache, Kay Latta, Carsten Bergmann

    Veröffentlicht 2015
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  15. 15
    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) von 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

    Veröffentlicht 2015
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  16. 16
    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 von 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

    Veröffentlicht 2015
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  17. 17
    Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta

    Exome Sequencing Identifies Truncating Mutations in Human SERPINF1 in Autosomal-Recessive Osteogenesis Imperfecta von Jutta Becker, Oliver Semler, Christian Gilissen, Yun Li, Hanno J. Bolz, Cecilia Giunta, Carsten Bergmann, Marianne Rohrbach, Friederike Koerber, Katharina Zimmermann, Petra de Vries, Brunhilde Wirth, Eckhard Schöenau, Bernd Wollnik, Joris A. Veltman, Alexander Hoischen, Christian Netzer

    Veröffentlicht 2011
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  18. 18
    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

    Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics von Claudia Dafinger, Max C. Liebau, Solaf M. Elsayed, Yorck Hellenbroich, Eugen Boltshauser, Georg Christoph Korenke, Francesca Fabretti, Andreas Janecke, Inga Ebermann, Gudrun Nürnberg, Peter Nürnberg, Hanswalter Zentgraf, Friederike Koerber, Klaus Addicks, Ezzat Elsobky, Thomas Benzing, Bernhard Schermer, Hanno J. Bolz

    Veröffentlicht 2011
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  19. 19
    PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

    PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome von Inga Ebermann, Jennifer B. Phillips, Max C. Liebau, Robert K. Koenekoop, Bernhard Schermer, Irma López, Ellen Schäfer, Anne‐Françoise Roux, Claudia Dafinger, Antje Bernd, Eberhart Zrenner, Mireille Claustres, Bernardo Blanco, Gudrun Nürnberg, Peter Nürnberg, Rebecca Ruland, Monte Westerfield, Thomas Benzing, Hanno J. Bolz

    Veröffentlicht 2010
    Volltext Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:
  20. 20
    Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa

    Mutations in HPRP3, a third member ofpre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa von Christina Chakarova, Matthew M. Hims, Hanno J. Bolz, Leen Abu‐Safieh, Reshma Patel, Myrto Papaioannou, Chris F. Inglehearn, T J Keen, Catherine Willis, Anthony T. Moore, Thomas Rosenberg, Andrew R. Webster, Alan C. Bird, Andreas Gal, David M. Hunt, Eranga N. Vithana, Shomi S. Bhattacharya

    Veröffentlicht 2002
    Volltext
    Artigo
    Zu den Favoriten
    Gespeichert in:

Suchwerkzeuge: