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38 Publications
2020 | Journal Article | IST-REx-ID: 7488 | 
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: 7586 |
S. Weinert et al., “Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration,” EMBO Journal.
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2020 | Journal Article | IST-REx-ID: 7877 |
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: 7957 |
I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” Trends in Neurosciences.
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2020 | Journal Article | IST-REx-ID: 7149 |
L. Avagliano et al., “Chromatinopathies: A focus on Cornelia de Lange syndrome,” Clinical Genetics, vol. 97, no. 1, pp. 3–11, 2020.
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| PubMed | Europe PMC