A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder.
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| Title: | A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. |
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| Authors: | Runge CL; Departments of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, Wisc., USA., Erbe CB, McNally MT, Van Dusen C, Friedland DR, Kwitek AE, Kerschner JE |
| Source: | Audiology & neuro-otology [Audiol Neurootol] 2013; Vol. 18 (6), pp. 374-82. Date of Electronic Publication: 2013 Oct 15. |
| Publication Type: | Case Reports; Journal Article; Research Support, N.I.H., Extramural |
| Journal Info: | Publisher: Karger Country of Publication: Switzerland NLM ID: 9606930 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1421-9700 (Electronic) Linking ISSN: 14203030 NLM ISO Abbreviation: Audiol Neurootol Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 24135434 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Runge+CL%22">Runge CL</searchLink>; Departments of Otolaryngology and Communication Sciences, Medical College of Wisconsin, Milwaukee, Wisc., USA.<br /><searchLink fieldCode="AU" term="%22Erbe+CB%22">Erbe CB</searchLink><br /><searchLink fieldCode="AU" term="%22McNally+MT%22">McNally MT</searchLink><br /><searchLink fieldCode="AU" term="%22Van+Dusen+C%22">Van Dusen C</searchLink><br /><searchLink fieldCode="AU" term="%22Friedland+DR%22">Friedland DR</searchLink><br /><searchLink fieldCode="AU" term="%22Kwitek+AE%22">Kwitek AE</searchLink><br /><searchLink fieldCode="AU" term="%22Kerschner+JE%22">Kerschner JE</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229606930%22">Audiology & neuro-otology</searchLink> [Audiol Neurootol] 2013; Vol. 18 (6), pp. 374-82. <i>Date of Electronic Publication: </i>2013 Oct 15. – Name: TypePub Label: Publication Type Group: TypPub Data: Case Reports; Journal Article; Research Support, N.I.H., Extramural – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Karger%22">Karger </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>9606930 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1421-9700 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214203030%22">14203030 </searchLink><i>NLM ISO Abbreviation: </i>Audiol Neurootol <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=24135434 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1159/000354978 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 374 Titles: – TitleFull: A novel otoferlin splice-site mutation in siblings with auditory neuropathy spectrum disorder. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Runge CL – PersonEntity: Name: NameFull: Erbe CB – PersonEntity: Name: NameFull: McNally MT – PersonEntity: Name: NameFull: Van Dusen C – PersonEntity: Name: NameFull: Friedland DR – PersonEntity: Name: NameFull: Kwitek AE – PersonEntity: Name: NameFull: Kerschner JE IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 01 Text: 2013 Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1421-9700 Numbering: – Type: volume Value: 18 – Type: issue Value: 6 Titles: – TitleFull: Audiology & neuro-otology Type: main |
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