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Progressive hearing loss and vestibular dysfunction caused by a homozygous nonsense mutation in CLIC5The Genetics of Deafness in Domestic AnimalsHOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic FamilyApplication of Mouse Models to Research in Hearing and BalanceA short splice form of Xin-actin binding repeat containing 2 (XIRP2) lacking the Xin repeats is required for maintenance of stereocilia morphology and hearing functionLarge-scale phenotyping of noise-induced hearing loss in 100 strains of mice.Genetic and clinical analysis of nonsyndromic hearing impairment in pediatric and adult cases.Hearing impairment and language delay in infants: Diagnostics and genetics.Using injectoporation to deliver genes to mechanosensory hair cellsWhole-exome sequencing and its impact in hereditary hearing lossWhole-exome sequencing efficiently detects rare mutations in autosomal recessive nonsyndromic hearing loss.Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing studyHigh prevalence of CDH23 mutations in patients with congenital high-frequency sporadic or recessively inherited hearing loss.Sensorineural Hearing Loss: A Changing Paradigm for Its Evaluation.Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysisDeaf genetic testing and psychological well-being in deaf adults.Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing lossMutation in the Hair Cell Specific Gene POU4F3 Is a Common Cause for Autosomal Dominant Nonsyndromic Hearing Loss in Chinese HansIdentification of a Novel ENU-Induced Mutation in Mouse Tbx1 Linked to Human DiGeorge Syndrome.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss.Bioinformatics in otolaryngology research. Part one: concepts in DNA sequencing and gene expression analysis.New treatment options for hearing loss.Whole-exome sequencing reveals diverse modes of inheritance in sporadic mild to moderate sensorineural hearing loss in a pediatric population.Next-generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read-through, and PEX26 mutated in Heimler syndrome.Patient experiences with gene panels based on exome sequencing in clinical diagnostics: high acceptance and low distress.SOX10 mutations mimic isolated hearing loss.Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.A de novo interstitial deletion of 7q31.2q31.31 identified in a girl with developmental delay and hearing loss.[Personalized medicine in otology. The role of genetic diagnostics in patients with hearing impairment].A novel nonsense mutation in MYO15A is associated with non-syndromic hearing loss: a case report
P2860
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P2860
description
article científic
@ca
article scientifique
@fr
articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
@pt
artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
@sq
artículo científico
@es
name
Genetics: advances in genetic testing for deafness.
@en
type
label
Genetics: advances in genetic testing for deafness.
@en
prefLabel
Genetics: advances in genetic testing for deafness.
@en
P2860
P1476
Genetics: advances in genetic testing for deafness
@en
P2093
A Eliot Shearer
P2860
P304
P356
10.1097/MOP.0B013E3283588F5E
P577
2012-12-01T00:00:00Z