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

Year Number of Results
1999 1
2006 1
2008 1
2011 1
2012 2
2013 4
2014 2
2015 3
2016 4
2017 5
2018 6
2019 6
2020 4
2021 9
2022 6
2023 3
2024 1

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46 results

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Page 1
Intractable startle epilepsy in Schuurs - Hoeijmakers syndrome.
Ohta K, Okanishi T, Kanai S, Okazaki T, Fujimoto A, Maegaki Y. Ohta K, et al. Among authors: okazaki t. Epileptic Disord. 2022 Jun 1;24(3):606-608. doi: 10.1684/epd.2022.1415. Epileptic Disord. 2022. PMID: 35770753 English. No abstract available.
Three Japanese patients with 3p13 microdeletions involving FOXP1.
Yamamoto-Shimojima K, Okamoto N, Matsumura W, Okazaki T, Yamamoto T. Yamamoto-Shimojima K, et al. Among authors: okazaki t. Brain Dev. 2019 Mar;41(3):257-262. doi: 10.1016/j.braindev.2018.10.016. Epub 2018 Nov 10. Brain Dev. 2019. PMID: 30424912
Clinical Characteristics of Fragile X Syndrome Patients in Japan.
Okazaki T, Adachi K, Matsuura K, Oyama Y, Nose M, Shirahata E, Abe T, Hasegawa T, Maihara T, Maegaki Y, Nanba E. Okazaki T, et al. Yonago Acta Med. 2021 Jan 6;64(1):30-33. doi: 10.33160/yam.2021.02.005. eCollection 2021 Feb. Yonago Acta Med. 2021. PMID: 33642901 Free PMC article.
Impaired neuronal integrity in traumatic brain injury detected by 123I-iomazenil single photon emission computed tomography and MRI.
Kato H, Nakagawara J, Hachisuka K, Hatazawa J, Ikoma K, Suehiro E, Iida H, Ogasawara K, Iizuka O, Ishiai S, Ichikawa T, Nariai T, Okazaki T, Shiga T, Mori E. Kato H, et al. Among authors: okazaki t. J Cereb Blood Flow Metab. 2022 Dec;42(12):2245-2254. doi: 10.1177/0271678X221113001. Epub 2022 Jul 7. J Cereb Blood Flow Metab. 2022. PMID: 35796498 Free PMC article.
Efficient detection of copy-number variations using exome data: Batch- and sex-based analyses.
Uchiyama Y, Yamaguchi D, Iwama K, Miyatake S, Hamanaka K, Tsuchida N, Aoi H, Azuma Y, Itai T, Saida K, Fukuda H, Sekiguchi F, Sakaguchi T, Lei M, Ohori S, Sakamoto M, Kato M, Koike T, Takahashi Y, Tanda K, Hyodo Y, Honjo RS, Bertola DR, Kim CA, Goto M, Okazaki T, Yamada H, Maegaki Y, Osaka H, Ngu LH, Siew CG, Teik KW, Akasaka M, Doi H, Tanaka F, Goto T, Guo L, Ikegawa S, Haginoya K, Haniffa M, Hiraishi N, Hiraki Y, Ikemoto S, Daida A, Hamano SI, Miura M, Ishiyama A, Kawano O, Kondo A, Matsumoto H, Okamoto N, Okanishi T, Oyoshi Y, Takeshita E, Suzuki T, Ogawa Y, Handa H, Miyazono Y, Koshimizu E, Fujita A, Takata A, Miyake N, Mizuguchi T, Matsumoto N. Uchiyama Y, et al. Among authors: okazaki t. Hum Mutat. 2021 Jan;42(1):50-65. doi: 10.1002/humu.24129. Epub 2020 Nov 11. Hum Mutat. 2021. PMID: 33131168
Gait disturbance in a patient with de novo 1.0-kb SOX2 microdeletion.
Yamada H, Okanishi T, Okazaki T, Oguri M, Fukuda H, Uchiyama Y, Mizuguchi T, Matsumoto N, Maegaki Y. Yamada H, et al. Among authors: okazaki t. Brain Dev. 2022 Jan;44(1):68-72. doi: 10.1016/j.braindev.2021.07.007. Epub 2021 Jul 29. Brain Dev. 2022. PMID: 34332824
Progressive cerebral atrophies in three children with COL4A1 mutations.
Nakamura Y, Okanishi T, Yamada H, Okazaki T, Hosoda C, Itai T, Miyatake S, Saitsu H, Matsumoto N, Maegaki Y. Nakamura Y, et al. Among authors: okazaki t. Brain Dev. 2021 Nov;43(10):1033-1038. doi: 10.1016/j.braindev.2021.06.008. Epub 2021 Jul 17. Brain Dev. 2021. PMID: 34281745
Genetic landscape of Rett syndrome-like phenotypes revealed by whole exome sequencing.
Iwama K, Mizuguchi T, Takeshita E, Nakagawa E, Okazaki T, Nomura Y, Iijima Y, Kajiura I, Sugai K, Saito T, Sasaki M, Yuge K, Saikusa T, Okamoto N, Takahashi S, Amamoto M, Tomita I, Kumada S, Anzai Y, Hoshino K, Fattal-Valevski A, Shiroma N, Ohfu M, Moroto M, Tanda K, Nakagawa T, Sakakibara T, Nabatame S, Matsuo M, Yamamoto A, Yukishita S, Inoue K, Waga C, Nakamura Y, Watanabe S, Ohba C, Sengoku T, Fujita A, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ogata K, Ito S, Saitsu H, Matsuishi T, Goto YI, Matsumoto N. Iwama K, et al. Among authors: okazaki t. J Med Genet. 2019 Jun;56(6):396-407. doi: 10.1136/jmedgenet-2018-105775. Epub 2019 Mar 6. J Med Genet. 2019. PMID: 30842224
Biallelic KARS pathogenic variants cause an early-onset progressive leukodystrophy.
Itoh M, Dai H, Horike SI, Gonzalez J, Kitami Y, Meguro-Horike M, Kuki I, Shimakawa S, Yoshinaga H, Ota Y, Okazaki T, Maegaki Y, Nabatame S, Okazaki S, Kawawaki H, Ueno N, Goto YI, Kato Y. Itoh M, et al. Among authors: okazaki t. Brain. 2019 Mar 1;142(3):560-573. doi: 10.1093/brain/awz001. Brain. 2019. PMID: 30715177
46 results