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32 Publications

2020 | Journal Article | IST-REx-ID: 7488   OA
Latorre-Pellicer, A., Ascaso, Á., Trujillano, L., Gil-Salvador, M., Arnedo, M., Lucia-Campos, C., … Pié, J. (2020). Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences, 21(3), 1042. https://doi.org/10.3390/ijms21031042
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2020 | Journal Article | IST-REx-ID: 7149
Avagliano, L., Parenti, I., Grazioli, P., Di Fede, E., Parodi, C., Mariani, M., … Massa, V. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics, 97(1), 3–11. https://doi.org/10.1111/cge.13674
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2019 | Journal Article | IST-REx-ID: 105
Marsh, A., Novarino, G., Lockhart, P., & Leventer, R. (2019). CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics, 27, 161–166. https://doi.org/10.1038/s41431-018-0231-2
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, B., Yahya, A. Ç., & Novarino, G. (2019). Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research, 1724. https://doi.org/10.1016/j.brainres.2019.146458
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2019 | Journal Article | IST-REx-ID: 7414
Knaus, L., Tarlungeanu, D.-C., & Novarino, G. (2019). S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology, 29(Supplement 6), S11. https://doi.org/10.1016/j.euroneuro.2019.09.039
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