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

Year Number of Results
2010 2
2012 2
2013 2
2015 1
2016 1
2017 5
2018 2
2019 1
2020 3
2021 2
2022 1
2024 0

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PubMed (Bookshelf cited) for id: 1392637

21 results

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Page 1
Clinical and genetic characteristics of patients with Doose syndrome.
Hinokuma N, Nakashima M, Asai H, Nakamura K, Akaboshi S, Fukuoka M, Togawa M, Oana S, Ohno K, Kasai M, Ogawa C, Yamamoto K, Okumiya K, Chong PF, Kira R, Uchino S, Fukuyama T, Shinagawa T, Miyata Y, Abe Y, Hojo A, Kobayashi K, Maegaki Y, Ishikawa N, Ikeda H, Amamoto M, Mizuguchi T, Iwama K, Itai T, Miyatake S, Saitsu H, Matsumoto N, Kato M. Hinokuma N, et al. Epilepsia Open. 2020 Jul 23;5(3):442-450. doi: 10.1002/epi4.12417. eCollection 2020 Sep. Epilepsia Open. 2020. PMID: 32913952 Free PMC article.
Clinical findings of 21 previously unreported probands with HNRNPU-related syndrome and comprehensive literature review.
Durkin A, Albaba S, Fry AE, Morton JE, Douglas A, Beleza A, Williams D, Volker-Touw CML, Lynch SA, Canham N, Clowes V, Straub V, Lachlan K, Gibbon F, El Gamal M, Varghese V, Parker MJ, Newbury-Ecob R, Turnpenny PD, Gardham A, Ghali N, Balasubramanian M. Durkin A, et al. Am J Med Genet A. 2020 Jul;182(7):1637-1654. doi: 10.1002/ajmg.a.61599. Epub 2020 Apr 22. Am J Med Genet A. 2020. PMID: 32319732 Free article. Review.
A map of constrained coding regions in the human genome.
Havrilla JM, Pedersen BS, Layer RM, Quinlan AR. Havrilla JM, et al. Nat Genet. 2019 Jan;51(1):88-95. doi: 10.1038/s41588-018-0294-6. Epub 2018 Dec 10. Nat Genet. 2019. PMID: 30531870 Free PMC article.
An episode of acute encephalopathy with biphasic seizures and late reduced diffusion followed by hemiplegia and intractable epilepsy observed in a patient with a novel frameshift mutation in HNRNPU.
Shimada S, Oguni H, Otani Y, Nishikawa A, Ito S, Eto K, Nakazawa T, Yamamoto-Shimojima K, Takanashi JI, Nagata S, Yamamoto T. Shimada S, et al. Brain Dev. 2018 Oct;40(9):813-818. doi: 10.1016/j.braindev.2018.05.010. Epub 2018 May 29. Brain Dev. 2018. PMID: 29858110
De novo mutations in HNRNPU result in a neurodevelopmental syndrome.
Yates TM, Vasudevan PC, Chandler KE, Donnelly DE, Stark Z, Sadedin S, Willoughby J; Broad Center for Mendelian Genomics; DDD study; Balasubramanian M. Yates TM, et al. Am J Med Genet A. 2017 Nov;173(11):3003-3012. doi: 10.1002/ajmg.a.38492. Epub 2017 Sep 25. Am J Med Genet A. 2017. PMID: 28944577 Free PMC article.
21 results