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36 Publications

2020 | Preprint | IST-REx-ID: 7800   OA
Morandell, J., Schwarz, L. A., Basilico, B., Tasciyan, S., Nicolas, A., Sommer, C. M., … Novarino, G. (n.d.). Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development. Cold Spring Harbor Laboratory.
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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
View | DOI | PubMed | Europe PMC
 
2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert, S., Gimber, N., Deuschel, D., Stuhlmann, T., Puchkov, D., Farsi, Z., … Jentsch, T. J. (n.d.). Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal, e103358. https://doi.org/10.15252/embj.2019103358
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2020 | Journal Article | IST-REx-ID: 7877   OA
Parenti, I., Diab, F., Gil, S. R., Mulugeta, E., Casa, V., Berutti, R., … Wendt, K. S. (2020). MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports, 31(7), 107647. https://doi.org/10.1016/j.celrep.2020.107647
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