ISABEL
LLANO RIVAS
University of Adelaide
Adelaida, AustraliaPublicaciones en colaboración con investigadores/as de University of Adelaide (2)
2022
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants
Genetics in Medicine, Vol. 24, Núm. 11, pp. 2351-2366
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