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.




38 Publications

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, 1042, MDPI, 2020, doi:10.3390/ijms21031042.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7586 | OA
Weinert, Stefanie, et al. “Uncoupling Endosomal CLC Chloride/Proton Exchange Causes Severe Neurodegeneration.” EMBO Journal, e103358, EMBO Press, doi:10.15252/embj.2019103358.
View | Files available | DOI
 
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, 107647, Elsevier, 2020, doi:10.1016/j.celrep.2020.107647.
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7957 | OA
Parenti, Ilaria, et al. “Neurodevelopmental Disorders: From Genetics to Functional Pathways.” Trends in Neurosciences, Elsevier, doi:10.1016/j.tins.2020.05.004.
View | DOI | Download Published Version (ext.)
 
2020 | Journal Article | IST-REx-ID: 7149 | OA
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.
View | DOI | Download Published Version (ext.) | PubMed | Europe PMC
 

Filters and Search Terms

type<>research_data

Search

Display / Sort

Citation Style: MLA

Export / Embed