Publicaciones en colaboración con investigadores/as de Kaiser Permanente Oakland Medical Center (1)

2015

  1. High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

    Human Mutation, Vol. 36, Núm. 11, pp. 1052-1063