ISABEL
LLANO RIVAS
KU Leuven
Lovaina, BélgicaPublicaciones en colaboración con investigadores/as de KU Leuven (2)
2016
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Interaction between a domain of the negative regulator of the ras-ERK pathway, SPRED1 protein, and the GTPase-activating protein-related domain of neurofibromin is implicated in legius syndrome and neurofibromatosis type 1
Journal of Biological Chemistry, Vol. 291, Núm. 7, pp. 3124-3134
2015
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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