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.




36 Publications

2020 | Preprint | IST-REx-ID: 7800   OA
Morandell J, Schwarz LA, Basilico B, et al. Cul3 regulates cytoskeleton protein homeostasis and cell migration during a critical window of brain development.
View | Files available | Download (ext.)
 
2020 | Journal Article | IST-REx-ID: 7488   OA
Latorre-Pellicer A, Ascaso Á, Trujillano L, et al. Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences. 2020;21(3):1042. doi:10.3390/ijms21031042
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7149
Avagliano L, Parenti I, Grazioli P, et al. Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics. 2020;97(1):3-11. doi:10.1111/cge.13674
View | DOI | PubMed | Europe PMC
 
2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert S, Gimber N, Deuschel D, et al. Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal.:e103358. doi:10.15252/embj.2019103358
View | Files available | DOI
 
2020 | Journal Article | IST-REx-ID: 7877   OA
Parenti I, Diab F, Gil SR, et al. MAU2 and NIPBL variants impair the heterodimerization of the cohesin loader subunits and cause Cornelia de Lange syndrome. Cell Reports. 2020;31(7):107647. doi:10.1016/j.celrep.2020.107647
View | Files available | DOI
 

Search

Filter Publications

Display / Sort

Citation Style: AMA

Export / Embed