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34 Publications

2020 | Journal Article | IST-REx-ID: 7488   OA
Latorre-Pellicer, Ana, Ángela Ascaso, Laura Trujillano, Marta Gil-Salvador, Maria Arnedo, Cristina Lucia-Campos, Rebeca Antoñanzas-Pérez, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences 21, no. 3 (2020): 1042. https://doi.org/10.3390/ijms21031042.
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2020 | Journal Article | IST-REx-ID: 7149
Avagliano, Laura, Ilaria Parenti, Paolo Grazioli, Elisabetta Di Fede, Chiara Parodi, Milena Mariani, Frank J. Kaiser, Angelo Selicorni, Cristina Gervasini, and Valentina Massa. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics 97, no. 1 (2020): 3–11. https://doi.org/10.1111/cge.13674.
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2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert, Stefanie, Niclas Gimber, Dorothea Deuschel, Till Stuhlmann, Dmytro Puchkov, Zohreh Farsi, Carmen F. Ludwig, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, n.d., e103358. https://doi.org/10.15252/embj.2019103358.
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2019 | Journal Article | IST-REx-ID: 105
Marsh, Ashley, Gaia Novarino, Paul Lockhart, and Richard Leventer. “CUGC for Pontocerebellar Hypoplasia Type 9 and Spastic Paraplegia-63.” European Journal of Human Genetics 27 (2019): 161–66. https://doi.org/10.1038/s41431-018-0231-2.
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, Bárbara, Aysan Çerağ Yahya, and Gaia Novarino. “Modeling Cell-Cell Interactions in the Brain Using Cerebral Organoids.” Brain Research 1724 (2019). https://doi.org/10.1016/j.brainres.2019.146458.
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