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Baquero-Montoya, C.* ; Gil-Rodríguez, M.C.* ; Braunholz, D.* ; Teresa-Rodrigo, M.E.* ; Obieglo, C.* ; Gener, B.* ; Schwarzmayr, T. ; Strom, T.M. ; Gómez-Puertas, P.* ; Puisac, B.* ; Gillessen-Kaesbach, G.* ; Musio, A.* ; Ramos, F.J.* ; Kaiser, F.J.* ; Pié, J.*

Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches.

Clin. Genet. 86, 595-597 (2014)
DOI PMC
Open Access Green as soon as Postprint is submitted to ZB.
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14
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Publication type Article: Journal article
Document type Scientific Article
Language english
Publication Year 2014
HGF-reported in Year 2014
ISSN (print) / ISBN 0009-9163
e-ISSN 1399-0004
Journal Clinical Genetics
Quellenangaben Volume: 86, Issue: 6, Pages: 595-597 Article Number: , Supplement: ,
Publisher Wiley
Reviewing status Peer reviewed
Institute(s) Institute of Human Genetics (IHG)
POF-Topic(s) 30501 - Systemic Analysis of Genetic and Environmental Factors that Impact Health
Research field(s) Genetics and Epidemiology
PSP Element(s) G-500700-001
PubMed ID 24635725
DOI 10.1111/cge.12333
WOS ID WOS:000345363900017
Scopus ID 84937512055
Scopus ID 84892884515
Erfassungsdatum 2014-02-12
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