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35 Publications

2020 | Preprint | IST-REx-ID: 7800   OA
Morandell, Jasmin, et al. 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, Ana, et al. “Evaluating Face2Gene as a Tool to Identify Cornelia de Lange Syndrome by Facial Phenotypes.” International Journal of Molecular Sciences, vol. 21, no. 3, MDPI, 2020, p. 1042, doi:10.3390/ijms21031042.
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2020 | Journal Article | IST-REx-ID: 7149
Avagliano, Laura, et al. “Chromatinopathies: A Focus on Cornelia de Lange Syndrome.” Clinical Genetics, vol. 97, no. 1, Wiley, 2020, pp. 3–11, doi:10.1111/cge.13674.
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2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert, Stefanie, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, EMBO Press, p. e103358, doi:10.15252/embj.2019103358.
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2020 | Journal Article | IST-REx-ID: 7877   OA
Parenti, Ilaria, et al. “MAU2 and NIPBL Variants Impair the Heterodimerization of the Cohesin Loader Subunits and Cause Cornelia de Lange Syndrome.” Cell Reports, vol. 31, no. 7, Elsevier, 2020, p. 107647, doi:10.1016/j.celrep.2020.107647.
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