Please note that LibreCat no longer supports Internet Explorer versions 8 or 9 (or earlier).

We recommend upgrading to the latest Internet Explorer, Google Chrome, or Firefox.




39 Publications

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. Wiley, pp. 3–11, 2020.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 
2020 | Journal Article | IST-REx-ID: 7957 | OA
I. Parenti, L. E. Garcia Rabaneda, H. Schön, and G. Novarino, “Neurodevelopmental disorders: From genetics to functional pathways,” Trends in Neurosciences, vol. 43, no. 8. Elsevier, pp. 608–621, 2020.
View | Files available | DOI | PubMed | Europe PMC
 
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. MDPI, 2020.
View | Files available | DOI
 
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. EMBO Press, 2020.
View | Files available | DOI | PubMed | Europe PMC
 
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. Elsevier, 2020.
View | Files available | DOI
 

Filters and Search Terms

type<>research_data

Search

Filter Publications