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There are 87121 results for: content related to: Auditory neuropathy in patients carrying mutations in the otoferlin gene ( OTOF )

  1. A multicenter study on the prevalence and spectrum of mutations in the otoferlin gene (OTOF) in subjects with nonsyndromic hearing impairment and auditory neuropathy

    Human Mutation

    Volume 29, Issue 6, June 2008, Pages: 823–831, Montserrat Rodríguez-Ballesteros, Raúl Reynoso, Margarita Olarte, Manuela Villamar, Constantino Morera, Rosamaria Santarelli, Edoardo Arslan, Carme Medá, Carlos Curet, Christiane Völter, Manuel Sainz-Quevedo, Pierangela Castorina, Umberto Ambrosetti, Stefano Berrettini, Klemens Frei, Socorro Tedín, Janine Smith, M. Cruz Tapia, Laura Cavallé, Nancy Gelvez, Paola Primignani, Elena Gómez-Rosas, Mirta Martín, Miguel A. Moreno-Pelayo, Martalucía Tamayo, José Moreno-Barral, Felipe Moreno and Ignacio del Castillo

    Article first published online : 31 MAR 2008, DOI: 10.1002/humu.20708

  2. A novel missense mutation in a C2 domain of OTOF results in autosomal recessive auditory neuropathy

    American Journal of Medical Genetics Part A

    Volume 138A, Issue 1, 15 September 2005, Pages: 6–10, Mustafa Tekin, Duygu Akcayoz and Armagan Incesulu

    Article first published online : 11 AUG 2005, DOI: 10.1002/ajmg.a.30907

  3. Non-syndromic, autosomal-recessive deafness

    Clinical Genetics

    Volume 69, Issue 5, May 2006, Pages: 371–392, MB Petersen and PJ Willems

    Article first published online : 27 APR 2006, DOI: 10.1111/j.1399-0004.2006.00613.x

  4. You have full text access to this OnlineOpen article
    A mouse model for distal renal tubular acidosis reveals a previously unrecognized role of the V-ATPase a4 subunit in the proximal tubule

    EMBO Molecular Medicine

    Volume 4, Issue 10, October 2012, Pages: 1057–1071, J. Christopher Hennings, Nicolas Picard, Antje K. Huebner, Tobias Stauber, Hannes Maier, Dennis Brown, Thomas J. Jentsch, Rosa Vargas-Poussou, Dominique Eladari and Christian A. Hübner

    Article first published online : 30 AUG 2012, DOI: 10.1002/emmm.201201527

  5. You have full text access to this OnlineOpen article
    Diversity of the causal genes in hearing impaired Algerian individuals identified by whole exome sequencing

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 3, May 2015, Pages: 189–196, Fatima Ammar-Khodja, Crystel Bonnet, Malika Dahmani, Sofiane Ouhab, Gaelle M. Lefèvre, Hassina Ibrahim, Jean-Pierre Hardelin, Dominique Weil, Malek Louha and Christine Petit

    Article first published online : 15 FEB 2015, DOI: 10.1002/mgg3.131

  6. You have full text access to this OnlineOpen article
    Novel pathogenic variants and genes for myopathies identified by whole exome sequencing

    Molecular Genetics & Genomic Medicine

    Volume 3, Issue 4, July 2015, Pages: 283–301, Jesse M. Hunter, Mary Ellen Ahearn, Christopher D. Balak, Winnie S. Liang, Ahmet Kurdoglu, Jason J. Corneveaux, Megan Russell, Matthew J. Huentelman, David W. Craig, John Carpten, Stephen W. Coons, Daphne E. DeMello, Judith G. Hall, Saunder M. Bernes and Lisa Baumbach-Reardon

    Article first published online : 8 APR 2015, DOI: 10.1002/mgg3.142

  7. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 27, Issue S1, June 2012, Pages: S1–S523,

    Article first published online : 19 JUN 2012, DOI: 10.1002/mds.25051

  8. A prevalent founder mutation and genotype–phenotype correlations of OTOF in Japanese patients with auditory neuropathy

    Clinical Genetics

    Volume 82, Issue 5, November 2012, Pages: 425–432, T Matsunaga, H Mutai, S Kunishima, K Namba, N Morimoto, Y Shinjo, Y Arimoto, Y Kataoka, T Shintani, N Morita, T Sugiuchi, S Masuda, A Nakano, H Taiji and K Kaga

    Article first published online : 31 MAY 2012, DOI: 10.1111/j.1399-0004.2012.01897.x

  9. You have free access to this content
    Poster Presentations

    Movement Disorders

    Volume 30, Issue S1, June 2015, Pages: S1–S567,

    Article first published online : 12 JUN 2015, DOI: 10.1002/mds.26295

  10. 2015 Peripheral Nerve Society Biennial Meeting

    Journal of the Peripheral Nervous System

    Volume 20, Issue 2, June 2015, Pages: 88–253,

    Article first published online : 21 AUG 2015, DOI: 10.1111/jns.12129

  11. Cross-reactive Antigens between Xanthomonas campestris pv. citri Pathotypes and Citrus Species

    Journal of Phytopathology

    Volume 138, Issue 1, May 1993, Pages: 84–88, Erna E. Bach and Aluisio P. C. Alba

    Article first published online : 1 MAY 2008, DOI: 10.1111/j.1439-0434.1993.tb01363.x

  12. Bacterial specificity in adult periodontitis

    Journal of Clinical Periodontology

    Volume 13, Issue 10, November 1986, Pages: 912–917, Jörgen Slots

    Article first published online : 14 DEC 2005, DOI: 10.1111/j.1600-051X.1986.tb01426.x

  13. Temple–Baraitser syndrome: A rare and possibly unrecognized condition

    American Journal of Medical Genetics Part A

    Volume 152A, Issue 9, September 2010, Pages: 2322–2326, Adeline Jacquinet, Marion Gérard, Michael T. Gabbett, Léon Rausin, Jean-Paul Misson, Björn Menten, Geert Mortier, Lionel Van Maldergem, Alain Verloes and François-Guillaume Debray

    Article first published online : 3 AUG 2010, DOI: 10.1002/ajmg.a.33574

  14. Jahresregister: Angew. Chem. 2005

    Angewandte Chemie

    Volume 117, Issue 48, December 9, 2005, Pages: 8211–8290,

    Article first published online : 8 DEC 2005, DOI: 10.1002/ange.200512345

  15. Development of hand preference for object-directed actions and pointing gestures: A longitudinal study between 15 and 25 months of age

    Developmental Psychobiology

    Volume 54, Issue 1, January 2012, Pages: 105–111, Hélène Cochet

    Article first published online : 8 JUN 2011, DOI: 10.1002/dev.20576

  16. Activation of Protein Kinase C Induces De Novo Synthesis of the Soluble Interleukin-6 Receptor in Human B Cells

    Scandinavian Journal of Immunology

    Volume 40, Issue 5, November 1994, Pages: 515–520, D. KÖRHOLZ, P. NUSSBAUM, B. PAFFERATH, C. MAUZ-KÖRHOLZ, L. HEMPEL and S. BURDACH

    Article first published online : 29 JUN 2006, DOI: 10.1111/j.1365-3083.1994.tb03498.x

  17. Pseudohypoparathyroidism Type Ia and Pseudo-Pseudohypoparathyroidism: The Growing Spectrum of GNAS Inactivating Mutations

    Human Mutation

    Volume 34, Issue 3, March 2013, Pages: 411–416, Francesca Marta Elli, Luisa deSanctis, Barbara Ceoloni, Anna Maria Barbieri, Paolo Bordogna, Paolo Beck-Peccoz, Anna Spada and Giovanna Mantovani

    Article first published online : 18 JAN 2013, DOI: 10.1002/humu.22265

  18. Pro-oxidant effects of normobaric hyperoxia in rat tissues

    Acta Physiologica Scandinavica

    Volume 145, Issue 2, June 1992, Pages: 151–157, M. AHOTUPA, E. MÄNTYLÄ, V. PELTOLA, A. PUNTALA and H. TOIVONEN

    Article first published online : 10 DEC 2008, DOI: 10.1111/j.1748-1716.1992.tb09350.x

  19. A LEUCOCYTE MIGRATION STUDY ON THE CELL-MEDIATED IMMUNITY AGAINST ADULT HUMAN ORAL MUCOSA AND STREPTOCOCCAL ANTIGENS IN PATIENTS WITH RECURRENT APHTHOUS STOMATITIS

    Acta Pathologica Microbiologica Scandinavica Section C Immunology

    Volume 84C, Issue 3, November 1976, Pages: 227–234, O. Donatsky

    Article first published online : 15 AUG 2009, DOI: 10.1111/j.1699-0463.1976.tb00024.x

  20. Effect of stemfly, Melanagromyza phaseoli (Tryon), on yield of pods and grains of soybeans in India

    Zeitschrift für Angewandte Entomologie

    Volume 80, Issue 1-4, January/December 1976, Pages: 438–441, G. A. Gangrade and O. P. Singh

    Article first published online : 26 AUG 2009, DOI: 10.1111/j.1439-0418.1976.tb03347.x