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40 Publications


2020 | Journal Article | IST-REx-ID: 7488 | OA
A. Latorre-Pellicer 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, 2020.
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2020 | Journal Article | IST-REx-ID: 7877 | OA
I. Parenti 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, 2020.
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2020 | Journal Article | IST-REx-ID: 7149 | OA
L. Avagliano et al., “Chromatinopathies: A focus on Cornelia de Lange syndrome,” Clinical Genetics, vol. 97, no. 1, pp. 3–11, 2020.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 

2020 | Journal Article | IST-REx-ID: 8730
N. Tournier et al., “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, 2020.
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2020 | Journal Article | IST-REx-ID: 7586 | OA
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal, vol. 39, 2020.
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