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

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

doi:10.1111/cge.12333

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

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

^*Korrespondierende/r Autor/-in für diese Arbeit

Institut für Humangenetik

20 Zitate (Scopus)

Originalsprache	Englisch
Zeitschrift	Clinical Genetics
Jahrgang	86
Ausgabenummer	6
Seiten (von - bis)	595-597
Seitenumfang	3
ISSN	0009-9163
DOIs	https://doi.org/10.1111/cge.12333
Publikationsstatus	Veröffentlicht - 01.01.2014

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Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

SDG 3 – Gesundheit und Wohlergehen

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10.1111/cge.12333

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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. (2014). Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches. Clinical Genetics, 86(6), 595-597. https://doi.org/10.1111/cge.12333

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title = "Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches",

author = "C. Baquero-Montoya and Gil-Rodr{\'i}guez, \{M. C.\} and D. Braunholz and Teresa-Rodrigo, \{M. E.\} and C. Obieglo and B. Gener and T. Schwarzmayr and Strom, \{T. M.\} and P. G{\'o}mez-Puertas and B. Puisac and G. Gillessen-Kaesbach and A. Musio and Ramos, \{F. J.\} and Kaiser, \{F. J.\} and J. Pi{\'e}",

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doi = "10.1111/cge.12333",

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Baquero-Montoya, C, Gil-Rodríguez, MC, Braunholz, D, Teresa-Rodrigo, ME, Obieglo, C, Gener, B, Schwarzmayr, T, Strom, TM, Gómez-Puertas, P, Puisac, B, Gillessen-Kaesbach, G, Musio, A, Ramos, FJ, Kaiser, FJ & Pié, J 2014, 'Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches', Clinical Genetics, Jg. 86, Nr. 6, S. 595-597. https://doi.org/10.1111/cge.12333

TY - JOUR

T1 - Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches

AU - Baquero-Montoya, C.

AU - Gil-Rodríguez, M. C.

AU - Braunholz, D.

AU - Teresa-Rodrigo, M. E.

AU - Obieglo, C.

AU - Gener, B.

AU - Schwarzmayr, T.

AU - Strom, T. M.

AU - Gómez-Puertas, P.

AU - Puisac, B.

AU - Gillessen-Kaesbach, G.

AU - Musio, A.

AU - Ramos, F. J.

AU - Kaiser, F. J.

AU - Pié, J.

PY - 2014/1/1

Y1 - 2014/1/1

UR - https://www.scopus.com/pages/publications/84937512055

U2 - 10.1111/cge.12333

DO - 10.1111/cge.12333

M3 - Editorial

C2 - 24635725

AN - SCOPUS:84937512055

SN - 0009-9163

VL - 86

SP - 595

EP - 597

JO - Clinical Genetics

JF - Clinical Genetics

IS - 6

ER -