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Original Articles

Genetics of congenital hearing impairment: A clinical approach

Pages 535-545 | Received 17 May 2008, Published online: 07 Jul 2009

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Preben Homøe, Anders Koch, Nanna Dahl Rendtorff, Marianne Lodahl, Ture Andersen, Stig Andersen, Hans Eiberg, Inge-Merete Nielsen & Lisbeth Tranebjærg. (2012) GJB2 (Connexin-26) mutations are not frequent among hearing impaired patients in East Greenland. International Journal of Audiology 51:6, pages 433-436.
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Geir Siem, Toril Fagerheim, Christoffer Jonsrud, Claude Laurent, Erik Teig, Sten Harris, Trond P. Leren, Andreas Früh & Ketil Heimdal. (2010) Causes of hearing impairment in the Norwegian paediatric cochlear implant program. International Journal of Audiology 49:8, pages 596-605.
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Articles from other publishers (13)

Antoinette am Zehnhoff-Dinnesen, Hanno J. Bolz, Gwen Carr, Manfred Gross✝, Ross Parfitt, Simona Poisson-Markova, Debbie Rix, Pavel Seeman, Eva Seemanova & Monika Tigges. 2020. Phoniatrics I. Phoniatrics I 963 981 .
Zdeněk Čada, Dana Šafka Brožková, Zuzana Balatková, Pavlína Plevová, Dagmar Rašková, Jana Laštůvková, Rudolf Černý, Veronika Bandúrová, Vladimír Koucký, Silvie Hrubá, Martin Komarc, Ján Jenčík, Simona Poisson Marková, Jan Plzák, Jan Kluh & Pavel Seeman. (2019) Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene. European Archives of Oto-Rhino-Laryngology 276:12, pages 3353-3358.
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Eveline Dieleman, Lone Percy-Smith & Per Caye-Thomasen. (2019) Language outcome in children with congenital hearing impairment: The influence of etiology. International Journal of Pediatric Otorhinolaryngology 117, pages 37-44.
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Daniela Back, Wafaa Shehata-Dieler, Barbara Vona, Michaela A. H. Hofrichter, Joerg Schroeder, Thomas Haaf, Torsten Rahne, Rudolf Hagen & Sebastian P. Schraven. (2019) Phenotypic Characterization of DFNB16-associated Hearing Loss. Otology & Neurotology 40:1, pages e48-e55.
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Raffaella Cascella, Claudia Strafella, Stefano Gambardella, Giuliana Longo, Paola Borgiani, Federica Sangiuolo, Giuseppe Novelli & Emiliano Giardina. (2016) Two molecular assays for the rapid and inexpensive detection of GJB2 and GJB6 mutations . ELECTROPHORESIS 37:5-6, pages 860-864.
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B. Vona, M.A.H. Hofrichter, C. Neuner, J. Schröder, A. Gehrig, J.B. Hennermann, F. Kraus, W. Shehata‐Dieler, E. Klopocki, I. Nanda & T. Haaf. (2014) DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics . Clinical Genetics 87:1, pages 49-55.
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Christopher Beck, Jose Carmelo Pérez-Álvarez, Alexander Sigruener, Frank Haubner, Till Seidler, Charalampos Aslanidis, Jürgen Strutz & Gerd Schmitz. (2014) Identification and genotype/phenotype correlation of mutations in a large German cohort with hearing loss. European Archives of Oto-Rhino-Laryngology.
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SARAH A. LANDSBERGER, AYESHA SAJID, LEAH SCHMELKIN, DAVID R. DIAZ & COURTNEY WEILER. (2013) Assessment and Treatment of Deaf Adults with Psychiatric Disorders. Journal of Psychiatric Practice 19:2, pages 87-97.
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Juan Rodriguez-Paris, Lynn Pique, Tahl Colen, Joseph Roberson, Phyllis Gardner & Iris Schrijver. (2010) Genotyping with a 198 Mutation Arrayed Primer Extension Array for Hereditary Hearing Loss: Assessment of Its Diagnostic Value for Medical Practice. PLoS ONE 5:7, pages e11804.
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Margit Schraders, Jaap Oostrik, Patrick L.M. Huygen, Tim M. Strom, Erwin van Wijk, Henricus P.M. Kunst, Lies H. Hoefsloot, Cor W.R.J. Cremers, Ronald J.C. Admiraal & Hannie Kremer. (2010) Mutations in PTPRQ Are a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment DFNB84 and Associated with Vestibular Dysfunction. The American Journal of Human Genetics 86:4, pages 604-610.
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Margit Schraders, Kwanghyuk Lee, Jaap Oostrik, Patrick L.M. Huygen, Ghazanfar Ali, Lies H. Hoefsloot, Joris A. Veltman, Frans P.M. Cremers, Sulman Basit, Muhammad Ansar, Cor W.R.J. Cremers, Henricus P.M. Kunst, Wasim Ahmad, Ronald J.C. Admiraal, Suzanne M. Leal & Hannie Kremer. (2010) Homozygosity Mapping Reveals Mutations of GRXCR1 as a Cause of Autosomal-Recessive Nonsyndromic Hearing Impairment. The American Journal of Human Genetics 86:2, pages 138-147.
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Jack R. Lee & Thomas W. White. (2009) Connexin-26 mutations in deafness and skin disease. Expert Reviews in Molecular Medicine 11.
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Christina G.S. Palmer, Ariadna Martinez, Michelle Fox, Jin Zhou, Nina Shapiro, Yvonne Sininger, Wayne W. Grody & Lisa A. Schimmenti. (2009) A prospective, longitudinal study of the impact of GJB2/GJB6 genetic testing on the beliefs and attitudes of parents of deaf and hard‐of‐hearing infants . American Journal of Medical Genetics Part A 149A:6, pages 1169-1182.
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