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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 1
2003 1
2004 1
2005 1
2007 2
2008 1
2009 5
2010 2
2011 1
2013 8
2014 11
2015 7
2016 12
2017 11
2018 8
2019 9
2020 16
2021 18
2022 18
2023 17
2024 10

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140 results

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Page 1
Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome.
Kummeling J, Stremmelaar DE, Raun N, Reijnders MRF, Willemsen MH, Ruiterkamp-Versteeg M, Schepens M, Man CCO, Gilissen C, Cho MT, McWalter K, Sinnema M, Wheless JW, Simon MEH, Genetti CA, Casey AM, Terhal PA, van der Smagt JJ, van Gassen KLI, Joset P, Bahr A, Steindl K, Rauch A, Keller E, Raas-Rothschild A, Koolen DA, Agrawal PB, Hoffman TL, Powell-Hamilton NN, Thiffault I, Engleman K, Zhou D, Bodamer O, Hoefele J, Riedhammer KM, Schwaibold EMC, Tasic V, Schubert D, Top D, Pfundt R, Higgs MR, Kramer JM, Kleefstra T. Kummeling J, et al. Among authors: schubert d. Mol Psychiatry. 2021 Jun;26(6):2013-2024. doi: 10.1038/s41380-020-0725-5. Epub 2020 Apr 28. Mol Psychiatry. 2021. PMID: 32346159
SCN1A-deficient excitatory neuronal networks display mutation-specific phenotypes.
van Hugte EJH, Lewerissa EI, Wu KM, Scheefhals N, Parodi G, van Voorst TW, Puvogel S, Kogo N, Keller JM, Frega M, Schubert D, Schelhaas HJ, Verhoeven J, Majoie M, van Bokhoven H, Nadif Kasri N. van Hugte EJH, et al. Among authors: schubert d. Brain. 2023 Dec 1;146(12):5153-5167. doi: 10.1093/brain/awad245. Brain. 2023. PMID: 37467479 Free PMC article.
Imbalanced autophagy causes synaptic deficits in a human model for neurodevelopmental disorders.
Linda K, Lewerissa EI, Verboven AHA, Gabriele M, Frega M, Klein Gunnewiek TM, Devilee L, Ulferts E, Hommersom M, Oudakker A, Schoenmaker C, van Bokhoven H, Schubert D, Testa G, Koolen DA, de Vries BBA, Nadif Kasri N. Linda K, et al. Among authors: schubert d. Autophagy. 2022 Feb;18(2):423-442. doi: 10.1080/15548627.2021.1936777. Epub 2021 Jul 21. Autophagy. 2022. PMID: 34286667 Free PMC article.
A human in vitro neuronal model for studying homeostatic plasticity at the network level.
Yuan X, Puvogel S, van Rhijn JR, Ciptasari U, Esteve-Codina A, Meijer M, Rouschop S, van Hugte EJH, Oudakker A, Schoenmaker C, Frega M, Schubert D, Franke B, Nadif Kasri N. Yuan X, et al. Among authors: schubert d. Stem Cell Reports. 2023 Nov 14;18(11):2222-2239. doi: 10.1016/j.stemcr.2023.09.011. Epub 2023 Oct 19. Stem Cell Reports. 2023. PMID: 37863044 Free PMC article.
140 results