Publicaciones en colaboración con investigadores/as de University of Lubeck (2)

2014

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

    Clinical Genetics

2009

  1. Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: A mandibulofacial dysostosis distinct from treacher collins syndrome

    American Journal of Medical Genetics, Part A, Vol. 149, Núm. 5, pp. 837-843