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

Year Number of Results
2002 4
2003 3
2004 1
2005 9
2006 4
2007 6
2008 5
2009 4
2010 6
2011 12
2012 15
2013 12
2014 12
2015 17
2016 10
2017 18
2018 18
2019 26
2020 28
2021 29
2022 36
2023 10
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Search Results

238 results
Results by year
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Page 1
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
Itai T, Miyatake S, Taguri M, Nozaki F, Ohta M, Osaka H, Morimoto M, Tandou T, Nohara F, Takami Y, Yoshioka F, Shimokawa S, Okuno-Yuguchi J, Motobayashi M, Takei Y, Fukuyama T, Kumada S, Miyata Y, Ogawa C, Maki Y, Togashi N, Ishikura T, Kinoshita M, Mitani Y, Kanemura Y, Omi T, Ando N, Hattori A, Saitoh S, Kitai Y, Hirai S, Arai H, Ishida F, Taniguchi H, Kitabatake Y, Ozono K, Nabatame S, Smigiel R, Kato M, Tanda K, Saito Y, Ishiyama A, Noguchi Y, Miura M, Nakano T, Hirano K, Honda R, Kuki I, Takanashi JI, Takeuchi A, Fukasawa T, Seiwa C, Harada A, Yachi Y, Higashiyama H, Terashima H, Kumagai T, Hada S, Abe Y, Miyagi E, Uchiyama Y, Fujita A, Imagawa E, Azuma Y, Hamanaka K, Koshimizu E, Mitsuhashi S, Mizuguchi T, Takata A, Miyake N, Tsurusaki Y, Doi H, Nakashima M, Saitsu H, Matsumoto N. Itai T, et al. Among authors: saitoh s. J Med Genet. 2021 Aug;58(8):505-513. doi: 10.1136/jmedgenet-2020-106896. Epub 2020 Jul 30. J Med Genet. 2021. PMID: 32732225
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: saitoh s. Neurol Sci. 2022 Apr;43(4):2765-2774. doi: 10.1007/s10072-021-05626-z. Epub 2021 Sep 28. Neurol Sci. 2022. PMID: 34585293
Whole-exome analysis of 177 pediatric patients with undiagnosed diseases.
Narita K, Muramatsu H, Narumi S, Nakamura Y, Okuno Y, Suzuki K, Hamada M, Yamaguchi N, Suzuki A, Nishio Y, Shiraki A, Yamamori A, Tsumura Y, Sawamura F, Kawaguchi M, Wakamatsu M, Kataoka S, Kato K, Asada H, Kubota T, Muramatsu Y, Kidokoro H, Natsume J, Mizuno S, Nakata T, Inagaki H, Ishihara N, Yonekawa T, Okumura A, Ogi T, Kojima S, Kaname T, Hasegawa T, Saitoh S, Takahashi Y. Narita K, et al. Among authors: saitoh s. Sci Rep. 2022 Aug 26;12(1):14589. doi: 10.1038/s41598-022-14161-6. Sci Rep. 2022. PMID: 36028527 Free PMC article.
A nationwide survey of Schaaf-Yang syndrome in Japan.
Negishi Y, Kurosawa K, Takano K, Matsubara K, Nishiyama T, Saitoh S. Negishi Y, et al. Among authors: saitoh s. J Hum Genet. 2022 Dec;67(12):735-738. doi: 10.1038/s10038-022-01089-y. Epub 2022 Oct 12. J Hum Genet. 2022. PMID: 36220858
Feeding-Induced Cortisol Response in Newborn Infants.
Kinoshita M, Iwata S, Okamura H, Tsuda K, Saikusa M, Harada E, Yamashita Y, Saitoh S, Iwata O. Kinoshita M, et al. Among authors: saitoh s. J Clin Endocrinol Metab. 2018 Dec 1;103(12):4450-4455. doi: 10.1210/jc.2018-01052. J Clin Endocrinol Metab. 2018. PMID: 30085188
Three KINSSHIP syndrome patients with mosaic and germline AFF3 variants.
Inoue Y, Tsuchida N, Okamoto N, Shuichi S, Ohashi K, Saitoh S, Ogawa A, Hamada K, Sakamoto M, Miyake N, Hamanaka K, Fujita A, Koshimizu E, Miyatake S, Mizuguchi T, Ogata K, Uchiyama Y, Matsumoto N. Inoue Y, et al. Among authors: saitoh s. Clin Genet. 2022 Dec 28. doi: 10.1111/cge.14292. Online ahead of print. Clin Genet. 2022. PMID: 36576140
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Sakamoto M, Iwama K, Sasaki M, Ishiyama A, Komaki H, Saito T, Takeshita E, Shimizu-Motohashi Y, Haginoya K, Kobayashi T, Goto T, Tsuyusaki Y, Iai M, Kurosawa K, Osaka H, Tohyama J, Kobayashi Y, Okamoto N, Suzuki Y, Kumada S, Inoue K, Mashimo H, Arisaka A, Kuki I, Saijo H, Yokochi K, Kato M, Inaba Y, Gomi Y, Saitoh S, Shirai K, Morimoto M, Izumi Y, Watanabe Y, Nagamitsu SI, Sakai Y, Fukumura S, Muramatsu K, Ogata T, Yamada K, Ishigaki K, Hirasawa K, Shimoda K, Akasaka M, Kohashi K, Sakakibara T, Ikuno M, Sugino N, Yonekawa T, Gürsoy S, Cinleti T, Kim CA, Teik KW, Yan CM, Haniffa M, Ohba C, Ito S, Saitsu H, Saida K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Misawa K, Miyatake S, Mizuguchi T, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: saitoh s. Genet Med. 2022 Dec;24(12):2453-2463. doi: 10.1016/j.gim.2022.08.007. Epub 2022 Oct 28. Genet Med. 2022. PMID: 36305856
Near-infrared light scattering and water diffusion in newborn brains.
Iwata S, Katayama R, Tsuda K, Lin YC, Kurata T, Kinoshita M, Kawase K, Kato T, Kato S, Hisano T, Oda M, Ohmae E, Takashima S, Araki Y, Saitoh S, Iwata O. Iwata S, et al. Among authors: saitoh s. Ann Clin Transl Neurol. 2022 Sep;9(9):1417-1427. doi: 10.1002/acn3.51641. Epub 2022 Aug 9. Ann Clin Transl Neurol. 2022. PMID: 35943446 Free PMC article.
238 results