Organización Sanitaria Integrada Bilbao-Basurto
Organización de Osakidetza
Johns Hopkins University School of Medicine
Baltimore, Estados UnidosPublikationen in Zusammenarbeit mit Forschern von Johns Hopkins University School of Medicine (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
2019
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Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS
American Journal of Human Genetics, Vol. 105, Núm. 1, pp. 151-165