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40 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). https://doi.org/10.3390/ijms21031042
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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). https://doi.org/10.1016/j.celrep.2020.107647
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2020 | Journal Article | IST-REx-ID: 7149 | OA
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 | Download Published Version (ext.) | PubMed | Europe PMC
 

2020 | Journal Article | IST-REx-ID: 8730
Tournier, N., Goutal, S., Mairinger, S., Lozano, I., Filip, T., Sauberer, M., … Langer, O. (2020). Complete inhibition of ABCB1 and ABCG2 at the blood-brain barrier by co-infusion of erlotinib and tariquidar to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib. Journal of Cerebral Blood Flow and Metabolism. https://doi.org/10.1177/0271678X20965500
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2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, S., Gimber, N., Deuschel, D., Stuhlmann, T., Puchkov, D., Farsi, Z., … Jentsch, T. J. (2020). Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal, 39. https://doi.org/10.15252/embj.2019103358
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