Publicaciones en colaboración con investigadores/as de Instituto de Neurociencias (4)

2014

  1. Interstitial deletion 14q22.3-q23.2: Genotype-phenotype correlation

    American Journal of Medical Genetics, Part A, Vol. 164, Núm. 3, pp. 639-647

2011

  1. Thanatophoric dysplasia type II with encephalocele and semilobar holoprosencephaly: Insights into its pathogenesis

    American Journal of Medical Genetics, Part A, Vol. 155, Núm. 1, pp. 197-202

2010

  1. Review of the recently defined molecular mechanisms underlying thanatophoric dysplasia and their potential therapeutic implications for achondroplasia

    American Journal of Medical Genetics, Part A, Vol. 152, Núm. 1, pp. 245-255

2007

  1. Snail1 Is a Transcriptional Effector of FGFR3 Signaling during Chondrogenesis and Achondroplasias

    Developmental Cell, Vol. 13, Núm. 6, pp. 872-883