INVESTIGACIÓN EN ENFERMEDADES RARAS
Centro Nacional de Investigaciones Oncológicas
Madrid, EspañaPublicaciones en colaboración con investigadores/as de Centro Nacional de Investigaciones Oncológicas (3)
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
2011
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Constitutional mosaic genome-wide uniparental disomy due to diploidisation: An unusual cancer-predisposing mechanism
Journal of Medical Genetics, Vol. 48, Núm. 3, pp. 212-216
2007
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Association study of 69 genes in the ret pathway identifies low-penetrance loci in sporadic medullary thyroid carcinoma
Cancer Research, Vol. 67, Núm. 19, pp. 9561-9567