Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease.
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| Title: | Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. |
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| Authors: | Shanks ME; Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK., Downes SM, Copley RR, Lise S, Broxholme J, Hudspith KA, Kwasniewska A, Davies WI, Hankins MW, Packham ER, Clouston P, Seller A, Wilkie AO, Taylor JC, Ragoussis J, Németh AH |
| Source: | European journal of human genetics : EJHG [Eur J Hum Genet] 2013 Mar; Vol. 21 (3), pp. 274-80. Date of Electronic Publication: 2012 Sep 12. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 22968130 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Shanks+ME%22">Shanks ME</searchLink>; Oxford Biomedical Research Centre, Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, UK.<br /><searchLink fieldCode="AU" term="%22Downes+SM%22">Downes SM</searchLink><br /><searchLink fieldCode="AU" term="%22Copley+RR%22">Copley RR</searchLink><br /><searchLink fieldCode="AU" term="%22Lise+S%22">Lise S</searchLink><br /><searchLink fieldCode="AU" term="%22Broxholme+J%22">Broxholme J</searchLink><br /><searchLink fieldCode="AU" term="%22Hudspith+KA%22">Hudspith KA</searchLink><br /><searchLink fieldCode="AU" term="%22Kwasniewska+A%22">Kwasniewska A</searchLink><br /><searchLink fieldCode="AU" term="%22Davies+WI%22">Davies WI</searchLink><br /><searchLink fieldCode="AU" term="%22Hankins+MW%22">Hankins MW</searchLink><br /><searchLink fieldCode="AU" term="%22Packham+ER%22">Packham ER</searchLink><br /><searchLink fieldCode="AU" term="%22Clouston+P%22">Clouston P</searchLink><br /><searchLink fieldCode="AU" term="%22Seller+A%22">Seller A</searchLink><br /><searchLink fieldCode="AU" term="%22Wilkie+AO%22">Wilkie AO</searchLink><br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink><br /><searchLink fieldCode="AU" term="%22Ragoussis+J%22">Ragoussis J</searchLink><br /><searchLink fieldCode="AU" term="%22Németh+AH%22">Németh AH</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2013 Mar; Vol. 21 (3), pp. 274-80. <i>Date of Electronic Publication: </i>2012 Sep 12. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=22968130 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/ejhg.2012.172 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 274 Titles: – TitleFull: Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Shanks ME – PersonEntity: Name: NameFull: Downes SM – PersonEntity: Name: NameFull: Copley RR – PersonEntity: Name: NameFull: Lise S – PersonEntity: Name: NameFull: Broxholme J – PersonEntity: Name: NameFull: Hudspith KA – PersonEntity: Name: NameFull: Kwasniewska A – PersonEntity: Name: NameFull: Davies WI – PersonEntity: Name: NameFull: Hankins MW – PersonEntity: Name: NameFull: Packham ER – PersonEntity: Name: NameFull: Clouston P – PersonEntity: Name: NameFull: Seller A – PersonEntity: Name: NameFull: Wilkie AO – PersonEntity: Name: NameFull: Taylor JC – PersonEntity: Name: NameFull: Ragoussis J – PersonEntity: Name: NameFull: Németh AH IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 03 Text: 2013 Mar Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1476-5438 Numbering: – Type: volume Value: 21 – Type: issue Value: 3 Titles: – TitleFull: European journal of human genetics : EJHG Type: main |
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