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

Year Number of Results
1998 1
2000 1
2003 1
2007 1
2008 7
2009 5
2010 6
2011 5
2012 7
2013 24
2014 16
2015 11
2016 21
2017 28
2018 35
2019 14
2020 2
2021 4
2022 1
2023 2
2024 0

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173 results

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Page 1
TM2D genes regulate Notch signaling and neuronal function in Drosophila.
Salazar JL, Yang SA, Lin YQ, Li-Kroeger D, Marcogliese PC, Deal SL, Neely GG, Yamamoto S. Salazar JL, et al. PLoS Genet. 2021 Dec 14;17(12):e1009962. doi: 10.1371/journal.pgen.1009962. eCollection 2021 Dec. PLoS Genet. 2021. PMID: 34905536 Free PMC article.
Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation.
Hansen AW, Arora P, Khayat MM, Smith LJ, Lewis AM, Rossetti LZ, Jayaseelan J, Cristian I, Haynes D, DiTroia S, Meeks N, Delgado MR, Rosenfeld JA, Pais L, White SM, Meng Q, Pehlivan D, Liu P, Gingras MC, Wangler MF, Muzny DM, Lupski JR, Kaplan CD, Gibbs RA. Hansen AW, et al. HGG Adv. 2021 Jan 14;2(1):100014. doi: 10.1016/j.xhgg.2020.100014. Epub 2020 Nov 20. HGG Adv. 2021. PMID: 33665635 Free PMC article.
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases.
Montenegro-Garreaud X, Hansen AW, Khayat MM, Chander V, Grochowski CM, Jiang Y, Li H, Mitani T, Kessler E, Jayaseelan J, Shen H, Gezdirici A, Pehlivan D, Meng Q, Rosenfeld JA, Jhangiani SN, Madan-Khetarpal S, Scott DA, Abarca-Barriga H, Trubnykova M, Gingras MC, Muzny DM, Posey JE, Liu P, Lupski JR, Gibbs RA. Montenegro-Garreaud X, et al. Hum Mutat. 2020 Dec;41(12):2094-2104. doi: 10.1002/humu.24118. Epub 2020 Oct 8. Hum Mutat. 2020. PMID: 32935419 Free PMC article. Review.
Edematous severe acute malnutrition is characterized by hypomethylation of DNA.
Schulze KV, Swaminathan S, Howell S, Jajoo A, Lie NC, Brown O, Sadat R, Hall N, Zhao L, Marshall K, May T, Reid ME, Taylor-Bryan C, Wang X, Belmont JW, Guan Y, Manary MJ, Trehan I, McKenzie CA, Hanchard NA. Schulze KV, et al. Nat Commun. 2019 Dec 19;10(1):5791. doi: 10.1038/s41467-019-13433-6. Nat Commun. 2019. PMID: 31857576 Free PMC article.
173 results