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010   $a3-0365-5224-3
035   $a(CKB)5470000001631606
035   $a(oapen)https://directory.doabooks.org/handle/20.500.12854/94543
035   $a(EXLCZ)995470000001631606
100   $a20202212d2022      |y             0
101 0 $aeng
135   $aurmn|---annan
181   $ctxt$2rdacontent
182   $cc$2rdamedia
183   $acr$2rdacarrier
200 10$aGenetics of Hearing Impairment
210   $aBasel$cMDPI - Multidisciplinary Digital Publishing Institute$d2022
215   $a1 electronic resource (314 p.)
311   $a3-0365-5223-5 
330   $aThe inner ear is a complex machinery at the cellular and molecular levels. Many different genes and proteins play roles in the development and maintenance of its structure and function, through participating in diverse molecular networks. A defect in any of these components can result in the loss of hearing. Consequently, hearing impairment encompasses a wide variety of disorders that are clinically and genetically heterogeneous. Understanding their genetic causes and their pathophysiological mechanisms, and characterizing the resulting phenotypes, are essential for developing novel therapies that target the specific defects. The articles and reviews in this book are representative of the many research lines that are currently active in the field, including recent advances in the genes and mutations involved in hearing impairment, the mechanisms through which mutations result in different syndromic or non-syndromic disorders, and the description of the associated phenotypes in humans and in animal models.
606   $aResearch & information: general$2bicssc
606   $aBiology, life sciences$2bicssc
606   $aGenetics (non-medical)$2bicssc
610   $ainner ear
610   $ahearing impairment
610   $agene identification
610   $adisease-causing mutations
610   $agenetic epidemiology
610   $agenotype&ndash
610   $aphenotype correlations
610   $apathophysiological mechanisms
610   $aomics
610   $agenome editing
610   $agene therapy
615  7$aResearch & information: general
615  7$aBiology, life sciences
615  7$aGenetics (non-medical)
700   $adel Castillo$b Ignacio$4edt$01331652
702   $aKremer$b Hannie$4edt
702   $adel Castillo$b Ignacio$4oth
702   $aKremer$b Hannie$4oth
906   $aBOOK
912   $a9910637793003321
996   $aGenetics of Hearing Impairment$93040534
997   $aUNINA