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

Year Number of Results
2002 4
2003 4
2004 10
2005 8
2006 13
2007 13
2008 5
2009 7
2010 13
2011 10
2012 11
2013 15
2014 21
2015 17
2016 19
2017 34
2018 28
2019 31
2020 42
2021 60
2022 45
2023 25
2024 7

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383 results

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Page 1
Increased PDGFRB and NF-κB signaling caused by highly prevalent somatic mutations in intracranial aneurysms.
Shima Y, Sasagawa S, Ota N, Oyama R, Tanaka M, Kubota-Sakashita M, Kawakami H, Kobayashi M, Takubo N, Ozeki AN, Sun X, Kim YJ, Kamatani Y, Matsuda K, Maejima K, Fujita M, Noda K, Kamiyama H, Tanikawa R, Nagane M, Shibahara J, Tanaka T, Rikitake Y, Mataga N, Takahashi S, Kosaki K, Okano H, Furihata T, Nakaki R, Akimitsu N, Wada Y, Ohtsuka T, Kurihara H, Kamiguchi H, Okabe S, Nakafuku M, Kato T, Nakagawa H, Saito N, Nakatomi H. Shima Y, et al. Among authors: kosaki k. Sci Transl Med. 2023 Jun 14;15(700):eabq7721. doi: 10.1126/scitranslmed.abq7721. Epub 2023 Jun 14. Sci Transl Med. 2023. PMID: 37315111
Expansion of the phenotype of Kosaki overgrowth syndrome.
Minatogawa M, Takenouchi T, Tsuyusaki Y, Iwasaki F, Uehara T, Kurosawa K, Kosaki K, Curry CJ. Minatogawa M, et al. Among authors: kosaki k. Am J Med Genet A. 2017 Sep;173(9):2422-2427. doi: 10.1002/ajmg.a.38310. Epub 2017 Jun 22. Am J Med Genet A. 2017. PMID: 28639748
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: kosaki k. 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
Medical genetics and genomic medicine in Japan.
Suzuki H, Watanabe T, Uehara T, Kosaki K. Suzuki H, et al. Among authors: kosaki k. Am J Med Genet C Semin Med Genet. 2019 Jun;181(2):166-169. doi: 10.1002/ajmg.c.31702. Epub 2019 May 21. Am J Med Genet C Semin Med Genet. 2019. PMID: 31111991 Review.
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: kosaki k. 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.
Genome-wide association study in patients with pulmonary Mycobacterium avium complex disease.
Namkoong H, Omae Y, Asakura T, Ishii M, Suzuki S, Morimoto K, Kawai Y, Emoto K, Oler AJ, Szymanski EP, Yoshida M, Matsuda S, Yagi K, Hase I, Nishimura T, Sasaki Y, Asami T, Shiomi T, Matsubara H, Shimada H, Hamamoto J, Jhun BW, Kim SY, Huh HJ, Won HH, Ato M, Kosaki K, Betsuyaku T, Fukunaga K, Kurashima A, Tettelin H, Yanai H, Mahasirimongkol S, Olivier KN, Hoshino Y, Koh WJ, Holland SM, Tokunaga K, Hasegawa N; Nontuberculous Mycobacteriosis and Bronchiectasis – Japan Research Consortium (NTM-JRC). Namkoong H, et al. Among authors: kosaki k. Eur Respir J. 2021 Aug 12;58(2):1902269. doi: 10.1183/13993003.02269-2019. Print 2021 Aug. Eur Respir J. 2021. PMID: 33542050 Free article.
Four pedigrees with aminoacyl-tRNA synthetase abnormalities.
Okamoto N, Miya F, Tsunoda T, Kanemura Y, Saitoh S, Kato M, Yanagi K, Kaname T, Kosaki K. Okamoto N, et al. Among authors: kosaki k. Neurol Sci. 2022 Apr;43(4):2765-2774. doi: 10.1007/s10072-021-05626-z. Epub 2021 Sep 28. Neurol Sci. 2022. PMID: 34585293
383 results