The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia.
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| Title: | The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. |
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| Authors: | Fonseca, Ana Carolina S.1, Bonaldi, Adriano1, Bertola, Débora R.1,2, Kim, Chong A.2, Otto, Paulo A.1, Vianna-Morgante, Angela M.1 avmorgan@ib.usp.br |
| Source: | BMC Medical Genetics. 2013, Vol. 14 Issue 1, p1-10. 10p. 1 Chart, 3 Graphs. |
| Database: | Academic Search Ultimate |
| FullText | Links: – Type: pdflink Text: Availability: 0 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 88013269 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AR" term="%22Fonseca%2C+Ana+Carolina+S%2E%22">Fonseca, Ana Carolina S.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Bonaldi%2C+Adriano%22">Bonaldi, Adriano</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Bertola%2C+Débora+R%2E%22">Bertola, Débora R.</searchLink><relatesTo>1,2</relatesTo><br /><searchLink fieldCode="AR" term="%22Kim%2C+Chong+A%2E%22">Kim, Chong A.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AR" term="%22Otto%2C+Paulo+A%2E%22">Otto, Paulo A.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AR" term="%22Vianna-Morgante%2C+Angela+M%2E%22">Vianna-Morgante, Angela M.</searchLink><relatesTo>1</relatesTo><i> avmorgan@ib.usp.br</i> – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22BMC+Medical+Genetics%22">BMC Medical Genetics</searchLink>. 2013, Vol. 14 Issue 1, p1-10. 10p. 1 Chart, 3 Graphs. |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=asn&AN=88013269 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/1471-2350-14-50 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 10 StartPage: 1 Titles: – TitleFull: The clinical impact of chromosomal rearrangements with breakpoints upstream of the SOX9 gene: two novel de novo balanced translocations associated with acampomelic campomelic dysplasia. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fonseca, Ana Carolina S. – PersonEntity: Name: NameFull: Bonaldi, Adriano – PersonEntity: Name: NameFull: Bertola, Débora R. – PersonEntity: Name: NameFull: Kim, Chong A. – PersonEntity: Name: NameFull: Otto, Paulo A. – PersonEntity: Name: NameFull: Vianna-Morgante, Angela M. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 06 Text: 2013 Type: published Y: 2013 Identifiers: – Type: issn-print Value: 14712350 Numbering: – Type: volume Value: 14 – Type: issue Value: 1 Titles: – TitleFull: BMC Medical Genetics Type: main |
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