Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.
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| Title: | Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. |
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| Authors: | Baquero‐Montoya, C.1, Gil‐Rodríguez, M.C.1, Braunholz, D.2, Teresa‐Rodrigo, M.E.1, Obieglo, C.2, Gener, B.3, Schwarzmayr, T.4, Strom, T.M.5, Gómez‐Puertas, P.6, Puisac, B.1, Gillessen‐Kaesbach, G.7, Musio, A.7, Ramos, F.J.1,8, Kaiser, F.J.2, Pié, J.1 |
| Source: | Clinical Genetics. Dec2014, Vol. 86 Issue 6, p595-597. 3p. 1 Graph. |
| Database: | Academic Search Ultimate |
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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: asn DbLabel: Academic Search Ultimate An: 99541851 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=99541851 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1111/cge.12333 Languages: – Code: eng Text: English PhysicalDescription: Pagination: PageCount: 3 StartPage: 595 Titles: – TitleFull: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Baquero‐Montoya, C. – PersonEntity: Name: NameFull: Gil‐Rodríguez, M.C. – PersonEntity: Name: NameFull: Braunholz, D. – PersonEntity: Name: NameFull: Teresa‐Rodrigo, M.E. – PersonEntity: Name: NameFull: Obieglo, C. – PersonEntity: Name: NameFull: Gener, B. – PersonEntity: Name: NameFull: Schwarzmayr, T. – PersonEntity: Name: NameFull: Strom, T.M. – PersonEntity: Name: NameFull: Gómez‐Puertas, P. – PersonEntity: Name: NameFull: Puisac, B. – PersonEntity: Name: NameFull: Gillessen‐Kaesbach, G. – PersonEntity: Name: NameFull: Musio, A. – PersonEntity: Name: NameFull: Ramos, F.J. – PersonEntity: Name: NameFull: Kaiser, F.J. – PersonEntity: Name: NameFull: Pié, J. IsPartOfRelationships: – BibEntity: Dates: – D: 01 M: 12 Text: Dec2014 Type: published Y: 2014 Identifiers: – Type: issn-print Value: 00099163 Numbering: – Type: volume Value: 86 – Type: issue Value: 6 Titles: – TitleFull: Clinical Genetics Type: main |
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