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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: 8131 | OA
B. Basilico, J. Morandell, and G. Novarino, “Molecular mechanisms for targeted ASD treatments,” Current Opinion in Genetics and Development, vol. 65, no. 12, pp. 126–137, 2020.
View | Files available | DOI | 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.
View | DOI | PubMed | Europe PMC
 

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