ISABEL
LLANO RIVAS
Yale School of Medicine
New Haven, Estados UnidosPublicaciones en colaboración con investigadores/as de Yale School of Medicine (2)
2019
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Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human Neurodevelopment
American Journal of Human Genetics, Vol. 104, Núm. 4, pp. 721-730
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