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Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India
Congenital hearing loss has been documented to occur in 1 of 1000 live births, with over half of these cases predicted to be hereditary in nature.1,2 Most hereditary hearing loss is inherited in aExpand
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Non-Syndromic Hearing Impairment in India: High Allelic Heterogeneity among Mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE
Mutations in the autosomal genes TMPRSS3, TMC1, USHIC, CDH23 and TMIE are known to cause hereditary hearing loss. To study the contribution of these genes to autosomal recessive, non-syndromicExpand
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Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss
In a study of 530 individuals with non-syndromic, sensorineural hearing loss, we identified 18 mutations at connexin 26 (Cx26), four of which are novel (−23G>T, I33T, 377_383dupTCCGCAT, W172R) andExpand
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Studying tinnitus in the ICF framework
Abstract Activity limitation and participation restriction (AL/PR) on account of tinnitus was studied in the ICF framework in order to understand how tinnitus restricts individuals from fulfillingExpand
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ICF-Based Analysis of Communication Disorders in Dementia of Alzheimer's Type
Purpose: Dementia of Alzheimer's type (DAT) is a major cognitive communication disorder. The present study attempted to analyse communication disorders in DAT in the International Classification ofExpand
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Acoustic Analysis of Speech of Cochlear Implantees and Its Implications
Objectives Cochlear implantees have improved speech production skills compared with those using hearing aids, as reflected in their acoustic measures. When compared to normal hearing controls,Expand
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Age of identification of hearing impairment in Mumbai--a trend analysis.
UNLABELLED Implementation of Universal Newborn Hearing Screening (UNHS) has led to lowering the age of identification of congenital hearing loss in children. In the absence of UNHS in Mumbai (India),Expand
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To Study Awareness Level of Dysphagia and Role of Speech Language Pathologist in Dysphagia Assessment and Management among Nurses
Over the years nearly every SLP department in the hospital across India has experienced a condition that poor referral from the medical professional for dysphagia management. This could be due toExpand
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A novel locus DFNA59 for autosomal dominant nonsyndromic hearing loss maps at chromosome 11p14.2–q12.3
Autosomal dominant nonsyndromic hearing loss (ADNSHL) accounts for about one-fifth of hereditary hearing loss in humans. In the present study, we have analyzed a three-generation family with 14 ofExpand
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Neurophysiological aspects of brainstem processing of speech stimuli in audiometric-normal geriatric population.
OBJECTIVE Poor auditory speech perception in geriatrics is attributable to neural de-synchronisation due to structural and degenerative changes of ageing auditory pathways. The speech-evoked auditoryExpand
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