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Original Article

Audiological profiles and gjb2, gjb6 mutations: A retrospective study on genetic and clinical data from 2003 to 2008

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Pages 93-105 | Published online: 13 Aug 2009

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Read on this site (2)

Pietro Salvago, Enrico Martines, Eleonora La Mattina, Marianna Mucia, Pietro Sammarco, Federico Sireci & Francesco Martines. (2014) Distribution and phenotype of GJB2 mutations in 102 Sicilian patients with congenital non syndromic sensorineural hearing loss. International Journal of Audiology 53:8, pages 558-563.
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Per-Inge Carlsson, Eva Karltorp, Eva Carlsson-Hansén, Henrik Åhlman, Claes Möller & Ulrika VonDöbeln. (2012) GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort. Acta Oto-Laryngologica 132:12, pages 1301-1305.
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Articles from other publishers (4)

Asmaa Missoum. (2018) The role of gene GJB2 and connexin 26 in hearing impairment. The Ukrainian Biochemical Journal 90:6, pages 5-11.
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C. Aimoni, A. Ciorba, L. Cerritelli, S. Ceruti, P.H. Skarżyński & S. Hatzopoulos. (2017) Enlarged vestibular aqueduct: Audiological and genetical features in children and adolescents. International Journal of Pediatric Otorhinolaryngology 101, pages 254-258.
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Maria Amorini, Petronilla Romeo, Rocco Bruno, Francesco Galletti, Chiara Di Bella, Patrizia Longo, Silvana Briuglia, Carmelo Salpietro & Luciana Rigoli. (2015) Prevalence of Deafness-Associated Connexin-26 ( GJB2 ) and Connexin-30 ( GJB6 ) Pathogenic Alleles in a Large Patient Cohort from Eastern Sicily . Annals of Human Genetics 79:5, pages 341-349.
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Francesco Martines, Pietro Salvago, Caterina Bartolotta, Salvatore Cocuzza, Carmelo Fabiano, Sergio Ferrara, Eleonora La Mattina, Marianna Mucia, Pietro Sammarco, Federico Sireci & Enrico Martines. (2014) A genotype–phenotype correlation in Sicilian patients with GJB2 biallelic mutations. European Archives of Oto-Rhino-Laryngology 272:8, pages 1857-1865.
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