Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism.
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| Title: | Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. |
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| Authors: | van Silfhout, Anneke T.1, van den Akker, Peter C.1, Dijkhuizen, Trijnie1, Verheij, Joke B. G. M.1, Olderode-Berends, Maran J. W.1, Kok, Klaas1, Sikkema-Raddatz, Birgit1, van Ravenswaaij-Arts, Conny M. A.1 c.m.a.van.ravenswaaij@medgen.umcg.nl |
| Source: | European Journal of Human Genetics. Nov2009, Vol. 17 Issue 11, p1432-1438. 7p. 1 Black and White Photograph, 2 Diagrams. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 44733356 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=44733356 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1038/ejhg.2009.72 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 7 StartPage: 1432 Titles: – TitleFull: Split hand/foot malformation due to chromosome 7q aberrations(SHFM1): additional support for functional haploinsufficiency as the causative mechanism. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: van Silfhout, Anneke T. – PersonEntity: Name: NameFull: van den Akker, Peter C. – PersonEntity: Name: NameFull: Dijkhuizen, Trijnie – PersonEntity: Name: NameFull: Verheij, Joke B. G. M. – PersonEntity: Name: NameFull: Olderode-Berends, Maran J. W. – PersonEntity: Name: NameFull: Kok, Klaas – PersonEntity: Name: NameFull: Sikkema-Raddatz, Birgit – PersonEntity: Name: NameFull: van Ravenswaaij-Arts, Conny M. A. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 11 Text: Nov2009 Type: published Y: 2009 Identifiers: – Type: issn-print Value: 10184813 Numbering: – Type: volume Value: 17 – Type: issue Value: 11 Titles: – TitleFull: European Journal of Human Genetics Type: main |
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