Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
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| Title: | Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. |
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| Authors: | Cooper DN; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK, cooperDN@cardiff.ac.uk., Krawczak M, Polychronakos C, Tyler-Smith C, Kehrer-Sawatzki H |
| Source: | Human genetics [Hum Genet] 2013 Oct; Vol. 132 (10), pp. 1077-130. Date of Electronic Publication: 2013 Jul 03. |
| Publication Type: | Journal Article; Research Support, Non-U.S. Gov't; Review |
| Journal Info: | Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: 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: 23820649 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Cooper+DN%22">Cooper DN</searchLink>; Institute of Medical Genetics, School of Medicine, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK, cooperDN@cardiff.ac.uk.<br /><searchLink fieldCode="AU" term="%22Krawczak+M%22">Krawczak M</searchLink><br /><searchLink fieldCode="AU" term="%22Polychronakos+C%22">Polychronakos C</searchLink><br /><searchLink fieldCode="AU" term="%22Tyler-Smith+C%22">Tyler-Smith C</searchLink><br /><searchLink fieldCode="AU" term="%22Kehrer-Sawatzki+H%22">Kehrer-Sawatzki H</searchLink> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%227613873%22">Human genetics</searchLink> [Hum Genet] 2013 Oct; Vol. 132 (10), pp. 1077-130. <i>Date of Electronic Publication: </i>2013 Jul 03. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article; Research Support, Non-U.S. Gov't; Review – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer+Verlag%22">Springer Verlag </searchLink><i>Country of Publication: </i>Germany <i>NLM ID: </i>7613873 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1432-1203 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2203406717%22">03406717 </searchLink><i>NLM ISO Abbreviation: </i>Hum Genet <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=23820649 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1007/s00439-013-1331-2 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 1077 Titles: – TitleFull: Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Cooper DN – PersonEntity: Name: NameFull: Krawczak M – PersonEntity: Name: NameFull: Polychronakos C – PersonEntity: Name: NameFull: Tyler-Smith C – PersonEntity: Name: NameFull: Kehrer-Sawatzki H IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: 2013 Oct Type: published Y: 2013 Identifiers: – Type: issn-electronic Value: 1432-1203 Numbering: – Type: volume Value: 132 – Type: issue Value: 10 Titles: – TitleFull: Human genetics Type: main |
| ResultId | 1 |
