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42 Publications


2018 | Journal Article | IST-REx-ID: 691 | OA
Marin Valencia, I., Novarino, G., Johansen, A., Rosti, B., Issa, M., Musaev, D., … Gleeson, J. (2018). A homozygous founder mutation in TRAPPC6B associates with a neurodevelopmental disorder characterised by microcephaly epilepsy and autistic features. Journal of Medical Genetics. BMJ Publishing Group. https://doi.org/10.1136/jmedgenet-2017-104627
View | DOI | Download Submitted Version (ext.) | PubMed | Europe PMC
 

2018 | Journal Article | IST-REx-ID: 456
Novarino, G. (2018). Zika-associated microcephaly: Reduce the stress and race for the treatment. Science Translational Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aar7514
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2018 | Journal Article | IST-REx-ID: 3 | OA
Deliu, E., Arecco, N., Morandell, J., Dotter, C., Contreras, X., Girardot, C., … Novarino, G. (2018). Haploinsufficiency of the intellectual disability gene SETD5 disturbs developmental gene expression and cognition. Nature Neuroscience. Nature Publishing Group. https://doi.org/10.1038/s41593-018-0266-2
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2018 | Thesis | IST-REx-ID: 395 | OA
Tarlungeanu, D.-C. (2018). The branched chain amino acids in autism spectrum disorders . IST Austria. https://doi.org/10.15479/AT:ISTA:th_992
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2017 | Journal Article | IST-REx-ID: 715
Novarino, G. (2017). More excitation for Rett syndrome. Science Translational Medicine. American Association for the Advancement of Science. https://doi.org/10.1126/scitranslmed.aao4218
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