PEDIATRÍA CLÍNICA Y ENFERMEDADES RARAS
Universitat Pompeu Fabra
Barcelona, EspañaPublikationen in Zusammenarbeit mit Forschern von Universitat Pompeu Fabra (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
2013
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Identification of a functional variant in the KIF5A-CYP27B1-METTL1-FAM119B locus associated with multiple sclerosis
Journal of Medical Genetics, Vol. 50, Núm. 1, pp. 25-33