DHCR7mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome.
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| Title: | DHCR7mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome. |
|---|---|
| Authors: | Ciara, E.1 elaciara@czd.waw.pl, Nowaczyk, M. J. M.2, Witsch-Baumgartner, M.3, Malunowicz, E.4, Popowska, E.1, Jezela-Stanek, A.1, Piotrowicz, M.5, Waye, J. S.2, Utermann, G.3, Krajewska-Walasek, M.1 |
| Source: | Clinical Genetics. Dec2004, Vol. 66 Issue 6, p517-524. 8p. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 14929007 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=14929007 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/j.1399-0004.2004.00350.x Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 517 Titles: – TitleFull: DHCR7mutations and genotype–phenotype correlation in 37 Polish patients with Smith–Lemli–Opitz syndrome. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Ciara, E. – PersonEntity: Name: NameFull: Nowaczyk, M. J. M. – PersonEntity: Name: NameFull: Witsch-Baumgartner, M. – PersonEntity: Name: NameFull: Malunowicz, E. – PersonEntity: Name: NameFull: Popowska, E. – PersonEntity: Name: NameFull: Jezela-Stanek, A. – PersonEntity: Name: NameFull: Piotrowicz, M. – PersonEntity: Name: NameFull: Waye, J. S. – PersonEntity: Name: NameFull: Utermann, G. – PersonEntity: Name: NameFull: Krajewska-Walasek, M. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2004 Type: published Y: 2004 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 66 – Type: issue Value: 6 Titles: – TitleFull: Clinical Genetics Type: main |
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