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

Year Number of Results
1990 1
1991 2
1993 2
1995 3
1996 3
1997 2
1998 3
1999 1
2000 2
2002 2
2003 2
2004 1
2005 3
2006 1
2007 5
2008 9
2009 2
2010 3
2011 7
2012 6
2013 7
2014 5
2015 13
2016 11
2017 9
2018 7
2019 11
2020 13
2021 14
2022 12
2023 2

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150 results

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Page 1
Angelman Syndrome: From Mouse Models to Therapy.
Rotaru DC, Mientjes EJ, Elgersma Y. Rotaru DC, et al. Among authors: elgersma y. Neuroscience. 2020 Oct 1;445:172-189. doi: 10.1016/j.neuroscience.2020.02.017. Epub 2020 Feb 21. Neuroscience. 2020. PMID: 32088294 Free article. Review.
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
van Woerden GM, Bos M, de Konink C, Distel B, Avagliano Trezza R, Shur NE, Barañano K, Mahida S, Chassevent A, Schreiber A, Erwin AL, Gripp KW, Rehman F, Brulleman S, McCormack R, de Geus G, Kalsner L, Sorlin A, Bruel AL, Koolen DA, Gabriel MK, Rossi M, Fitzpatrick DR, Wilkie AOM, Calpena E, Johnson D, Brooks A, van Slegtenhorst M, Fleischer J, Groepper D, Lindstrom K, Innes AM, Goodwin A, Humberson J, Noyes A, Langley KG, Telegrafi A, Blevins A, Hoffman J, Guillen Sacoto MJ, Juusola J, Monaghan KG, Punj S, Simon M, Pfundt R, Elgersma Y, Kleefstra T. van Woerden GM, et al. Among authors: elgersma y. Hum Mutat. 2021 Apr;42(4):445-459. doi: 10.1002/humu.24176. Epub 2021 Mar 1. Hum Mutat. 2021. PMID: 33565190 Free PMC article.
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network; Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study; Petrovski S, Retterer K, Eichl… See abstract for full author list ➔ Küry S, et al. Among authors: elgersma y. Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003. Am J Hum Genet. 2017. PMID: 29100089 Free PMC article.
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlations.
van Woerden GM, Senden R, de Konink C, Trezza RA, Baban A, Bassetti JA, van Bever Y, Bird LM, van Bon BW, Brooks AS, Guan Q, Klee EW, Marcelis C, Rosado JM, Schimmenti LA, Shikany AR, Terhal PA, Nicole Weaver K, Wessels MW, van Wieringen H, Hurst AC, Gooch CF, Steindl K, Joset P, Rauch A, Tartaglia M, Niceta M, Elgersma Y, Demirdas S. van Woerden GM, et al. Among authors: elgersma y. Hum Mutat. 2022 Oct;43(10):1377-1395. doi: 10.1002/humu.24425. Epub 2022 Jul 29. Hum Mutat. 2022. PMID: 35730652 Free PMC article.
From process to progress-2017 International Conference on Neurofibromatosis 1, Neurofibromatosis 2 and Schwannomatosis.
Ferner RE, Bakker A, Elgersma Y, Evans DGR, Giovannini M, Legius E, Lloyd A, Messiaen LM, Plotkin S, Reilly KM, Schindeler A, Smith MJ, Ullrich NJ, Widemann B, Sherman LS. Ferner RE, et al. Among authors: elgersma y. Am J Med Genet A. 2019 Jun;179(6):1098-1106. doi: 10.1002/ajmg.a.61112. Epub 2019 Mar 25. Am J Med Genet A. 2019. PMID: 30908866 Free PMC article.
How the COVID-19 pandemic highlights the necessity of animal research.
Genzel L, Adan R, Berns A, van den Beucken JJJP, Blokland A, Boddeke EHWGM, Bogers WM, Bontrop R, Bulthuis R, Bousema T, Clevers H, Coenen TCJJ, van Dam AM, Deen PMT, van Dijk KW, Eggen BJL, Elgersma Y, Erdogan I, Englitz B, Fentener van Vlissingen JM, la Fleur S, Fouchier R, Fitzsimons CP, Frieling W, Haagmans B, Heesters BA, Henckens MJAG, Herfst S, Hol E, van den Hove D, de Jonge MI, Jonkers J, Joosten LAB, Kalsbeek A, Kamermans M, Kampinga HH, Kas MJ, Keijer JA, Kersten S, Kiliaan AJ, Kooij TWA, Kooijman S, Koopman WJH, Korosi A, Krugers HJ, Kuiken T, Kushner SA, Langermans JAM, Lesscher HMB, Lucassen PJ, Lutgens E, Netea MG, Noldus LPJJ, van der Meer JWM, Meye FJ, Mul JD, van Oers K, Olivier JDA, Pasterkamp RJ, Philippens IHCHM, Prickaerts J, Pollux BJA, Rensen PCN, van Rheenen J, van Rij RP, Ritsma L, Rockx BHG, Roozendaal B, van Schothorst EM, Stittelaar K, Stockhofe N, Swaab DF, de Swart RL, Vanderschuren LJMJ, de Vries TJ, de Vrij F, van Wezel R, Wierenga CJ, Wiesmann M, Willuhn I, de Zeeuw CI, Homberg JR. Genzel L, et al. Among authors: elgersma y. Curr Biol. 2020 Sep 21;30(18):R1014-R1018. doi: 10.1016/j.cub.2020.08.030. Epub 2020 Aug 10. Curr Biol. 2020. PMID: 32961149 Free PMC article.
Rheb: enrichment beyond the brain.
Goorden SM, Elgersma Y. Goorden SM, et al. Among authors: elgersma y. Cell Cycle. 2011 Aug 1;10(15):2412-3. doi: 10.4161/cc.10.15.16385. Epub 2011 Aug 1. Cell Cycle. 2011. PMID: 21670600 No abstract available.
Treatment of neurodevelopmental disorders in adulthood.
Castrén E, Elgersma Y, Maffei L, Hagerman R. Castrén E, et al. Among authors: elgersma y. J Neurosci. 2012 Oct 10;32(41):14074-9. doi: 10.1523/JNEUROSCI.3287-12.2012. J Neurosci. 2012. PMID: 23055475 Free PMC article. Review.
150 results