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

Year Number of Results
2009 2
2010 5
2011 6
2012 14
2013 9
2014 15
2015 9
2016 6
2017 13
2018 13
2019 16
2020 20
2021 21
2022 17
2023 12
2024 4

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147 results

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Page 1
Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada M, Nitta Y, Uehara T, Suzuki H, Miya F, Takenouchi T, Tamura M, Ayabe S, Yoshiki A, Maeno A, Saga Y, Furuse T, Yamada I, Okamoto N, Kosaki K, Sugie A. Yamada M, et al. Among authors: takenouchi t. Eur J Med Genet. 2023 Aug;66(8):104804. doi: 10.1016/j.ejmg.2023.104804. Epub 2023 Jun 25. Eur J Med Genet. 2023. PMID: 37369308
Vanishing basal ganglia in ATP1A3-related polymicrogyria.
Ogawa E, Sakaguchi Y, Enokizono M, Yoshihashi H, Yamada M, Suzuki H, Kosaki K, Miyama S, Takenouchi T. Ogawa E, et al. Among authors: takenouchi t. Am J Med Genet A. 2022 Feb;188(2):665-667. doi: 10.1002/ajmg.a.62531. Epub 2021 Oct 11. Am J Med Genet A. 2022. PMID: 34633143 No abstract available.
Gas biology: tiny molecules controlling metabolic systems.
Kajimura M, Nakanishi T, Takenouchi T, Morikawa T, Hishiki T, Yukutake Y, Suematsu M. Kajimura M, et al. Among authors: takenouchi t. Respir Physiol Neurobiol. 2012 Nov 15;184(2):139-48. doi: 10.1016/j.resp.2012.03.016. Epub 2012 Mar 30. Respir Physiol Neurobiol. 2012. PMID: 22516267 Free article. Review.
Growth pattern of Rahman syndrome.
Takenouchi T, Uehara T, Kosaki K, Mizuno S. Takenouchi T, et al. Am J Med Genet A. 2018 Mar;176(3):712-714. doi: 10.1002/ajmg.a.38616. Epub 2018 Jan 31. Am J Med Genet A. 2018. PMID: 29383847
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Voisin N, Schnur RE, Douzgou S, Hiatt SM, Rustad CF, Brown NJ, Earl DL, Keren B, Levchenko O, Geuer S, Verheyen S, Johnson D, Zarate YA, Hančárová M, Amor DJ, Bebin EM, Blatterer J, Brusco A, Cappuccio G, Charrow J, Chatron N, Cooper GM, Courtin T, Dadali E, Delafontaine J, Del Giudice E, Doco M, Douglas G, Eisenkölbl A, Funari T, Giannuzzi G, Gruber-Sedlmayr U, Guex N, Heron D, Holla ØL, Hurst ACE, Juusola J, Kronn D, Lavrov A, Lee C, Lorrain S, Merckoll E, Mikhaleva A, Norman J, Pradervand S, Prchalová D, Rhodes L, Sanders VR, Sedláček Z, Seebacher HA, Sellars EA, Sirchia F, Takenouchi T, Tanaka AJ, Taska-Tench H, Tønne E, Tveten K, Vitiello G, Vlčková M, Uehara T, Nava C, Yalcin B, Kosaki K, Donnai D, Mundlos S, Brunetti-Pierri N, Chung WK, Reymond A. Voisin N, et al. Among authors: takenouchi t. Am J Hum Genet. 2021 May 6;108(5):857-873. doi: 10.1016/j.ajhg.2021.04.001. Am J Hum Genet. 2021. PMID: 33961779 Free PMC article.
A novel variant of ARPC4-related neurodevelopmental disorder.
Kuroda Y, Kumaki T, Saito Y, Enomoto Y, Suzuki H, Takenouchi T, Kosaki K, Kurosawa K. Kuroda Y, et al. Among authors: takenouchi t. Am J Med Genet A. 2023 Mar;191(3):893-895. doi: 10.1002/ajmg.a.63082. Epub 2022 Dec 13. Am J Med Genet A. 2023. PMID: 36513617 No abstract available.
147 results