Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.
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| Title: | Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. |
|---|---|
| Authors: | Di Gregorio, E.1,2, Riberi, E.3, Belligni, E.F.3, Biamino, E.3, Spielmann, M.4, Ala, U.5,6, Calcia, A.1, Bagnasco, I.7, Carli, D.1, Gai, G.2, Giordano, M.8, Guala, A.9, Keller, R.10, Mandrile, G.2,11, Arduino, C.2, Maffè, A.12, Naretto, V.G.2, Sirchia, F.12, Sorasio, L.13, Ungari, S.12 |
| Source: | Clinical Genetics. Oct2017, Vol. 92 Issue 4, p415-422. 8p. 4 Diagrams. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 125257604 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=125257604 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.13009 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 8 StartPage: 415 Titles: – TitleFull: Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Di Gregorio, E. – PersonEntity: Name: NameFull: Riberi, E. – PersonEntity: Name: NameFull: Belligni, E.F. – PersonEntity: Name: NameFull: Biamino, E. – PersonEntity: Name: NameFull: Spielmann, M. – PersonEntity: Name: NameFull: Ala, U. – PersonEntity: Name: NameFull: Calcia, A. – PersonEntity: Name: NameFull: Bagnasco, I. – PersonEntity: Name: NameFull: Carli, D. – PersonEntity: Name: NameFull: Gai, G. – PersonEntity: Name: NameFull: Giordano, M. – PersonEntity: Name: NameFull: Guala, A. – PersonEntity: Name: NameFull: Keller, R. – PersonEntity: Name: NameFull: Mandrile, G. – PersonEntity: Name: NameFull: Arduino, C. – PersonEntity: Name: NameFull: Maffè, A. – PersonEntity: Name: NameFull: Naretto, V.G. – PersonEntity: Name: NameFull: Sirchia, F. – PersonEntity: Name: NameFull: Sorasio, L. – PersonEntity: Name: NameFull: Ungari, S. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 10 Text: Oct2017 Type: published Y: 2017 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 92 – Type: issue Value: 4 Titles: – TitleFull: Clinical Genetics Type: main |
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