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34 Publications

2020 | Journal Article | IST-REx-ID: 7488   OA
Latorre-Pellicer, A., Ascaso, Á., Trujillano, L., Gil-Salvador, M., Arnedo, M., Lucia-Campos, C., … Pié, J. (2020). Evaluating Face2Gene as a tool to identify Cornelia de Lange syndrome by facial phenotypes. International Journal of Molecular Sciences, 21(3), 1042. https://doi.org/10.3390/ijms21031042
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2020 | Journal Article | IST-REx-ID: 7149
Avagliano, L., Parenti, I., Grazioli, P., Di Fede, E., Parodi, C., Mariani, M., … Massa, V. (2020). Chromatinopathies: A focus on Cornelia de Lange syndrome. Clinical Genetics, 97(1), 3–11. https://doi.org/10.1111/cge.13674
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2020 | Journal Article | IST-REx-ID: 7586   OA
Weinert, S., Gimber, N., Deuschel, D., Stuhlmann, T., Puchkov, D., Farsi, Z., … Jentsch, T. J. (n.d.). Uncoupling endosomal CLC chloride/proton exchange causes severe neurodegeneration. EMBO Journal, e103358. https://doi.org/10.15252/embj.2019103358
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2019 | Journal Article | IST-REx-ID: 105
Marsh, A., Novarino, G., Lockhart, P., & Leventer, R. (2019). CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63. European Journal of Human Genetics, 27, 161–166. https://doi.org/10.1038/s41431-018-0231-2
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2019 | Journal Article | IST-REx-ID: 6896
Oliveira, B., Yahya, A. Ç., & Novarino, G. (2019). Modeling cell-cell interactions in the brain using cerebral organoids. Brain Research, 1724. https://doi.org/10.1016/j.brainres.2019.146458
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2019 | Journal Article | IST-REx-ID: 7414
Knaus, L., Tarlungeanu, D.-C., & Novarino, G. (2019). S.16.03 A homozygous missense mutation in SLC7A5 leads to autism spectrum disorder and microcephaly. European Neuropsychopharmacology, 29(Supplement 6), S11. https://doi.org/10.1016/j.euroneuro.2019.09.039
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2019 | Research Data | IST-REx-ID: 6074
Dotter, C., & Novarino, G. (2019). Supplementary data for the research paper “Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition.” IST Austria. https://doi.org/10.15479/AT:ISTA:6074
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2019 | Journal Article | IST-REx-ID: 7415
Morandell, J., Nicolas, A., Schwarz, L. A., & Novarino, G. (2019). S.16.05 Illuminating the role of the e3 ubiquitin ligase cullin3 in brain development and autism. European Neuropsychopharmacology, 29(Supplement 6), S11–S12. https://doi.org/10.1016/j.euroneuro.2019.09.040
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2019 | Journal Article | IST-REx-ID: 6088
Traxl, A., Mairinger, S., Filip, T., Sauberer, M., Stanek, J., Poschner, S., … Langer, O. (2019). Inhibition of ABCB1 and ABCG2 at the mouse blood-brain barrier with marketed drugs to improve brain delivery of the model ABCB1/ABCG2 substrate [11C]erlotinib. Molecular Pharmaceutics, 16(3), 1282–1293. https://doi.org/10.1021/acs.molpharmaceut.8b01217
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2019 | Journal Article | IST-REx-ID: 6470
Éltes, T., Szoboszlay, M., Szigeti, M. K., & Nusser, Z. (2019). Improved spike inference accuracy by estimating the peak amplitude of unitary [Ca2+] transients in weakly GCaMP6f-expressing hippocampal pyramidal cells. Journal of Physiology, 597(11), 2925–2947. https://doi.org/10.1113/JP277681
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