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Audiological Findings In Otospondylomegaepiphyseal Dysplasia (Osmed) Associated With A Novel Mutation In Col11A2
(Elsevier Ireland Ltd, 2011)
The aim of the study was to assess the audiological findings of a 4-year-old child with a homozygous COL11A2 mutation and to point out the role of continuous follow-ups in children with craniofacial syndromes after the ...
Comprehensive Analysis Via Exome Sequencing Uncovers Genetic Etiology In Autosomal Recessive Non-Syndromic Deafness In A Large Multiethnic Cohort
Purpose Autosomal recessive non-syndromic deafness (ARNSD) is characterized by a high degree of genetic heterogeneity with reported mutations in 58 different genes. This study was designed to detect deafness causing variants ...
Can Global Field Power Be An Objective Tool To Assess Cortical Responses To Acoustic Change? A Study With Cochlear Implant Users
Introduction: The aim of the present study was to record and analyse acoustic change complex (ACC) response with Global Field Power (GFP) in cochlear implant users. Materials and Methods: Event-related potentials were ...