Detalle de: Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches
| Title | Somatic mosaicism in a Cornelia de Lange syndrome patient with NIPBL mutation identified by different next generation sequencing approaches |
| Abstract | |
| Apa Reference | 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 <scp>NIPBL</scp> mutation identified by different next generation sequencing approaches. Clinical Genetics, 86(6), 595–597. Portico. 10.1111/cge.12333 |
| Doi | 10.1111/cge.12333 |
| Publication Date | 26 Jan 2014 |
| Publication Type | Article |
| Researcher | Paulino Gomez-Puertas |
| Ontology | |
| Research Groups | Molecular Modeling Group |
| Tools |