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Page 1
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: ito 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 Free article.
Molecular genetic analysis of 30 families with Joubert syndrome.
Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Suzuki T, et al. Among authors: ito s. Clin Genet. 2016 Dec;90(6):526-535. doi: 10.1111/cge.12836. Epub 2016 Sep 26. Clin Genet. 2016. PMID: 27434533
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Sakamoto M, Sasaki K, Sugie A, Nitta Y, Kimura T, Gürsoy S, Cinleti T, Iai M, Sengoku T, Ogata K, Suzuki A, Okamoto N, Iwama K, Tsuchida N, Uchiyama Y, Koshimizu E, Fujita A, Hamanaka K, Miyatake S, Mizuguchi T, Taguri M, Ito S, Takahashi H, Miyake N, Matsumoto N. Sakamoto M, et al. Among authors: ito s. Hum Mol Genet. 2021 Dec 17;31(1):69-81. doi: 10.1093/hmg/ddab224. Hum Mol Genet. 2021. PMID: 34346499
Tablet-Based Cognitive and Eye Movement Measures as Accessible Tools for Schizophrenia Assessment: Multisite Usability Study.
Morita K, Miura K, Toyomaki A, Makinodan M, Ohi K, Hashimoto N, Yasuda Y, Mitsudo T, Higuchi F, Numata S, Yamada A, Aoki Y, Honda H, Mizui R, Honda M, Fujikane D, Matsumoto J, Hasegawa N, Ito S, Akiyama H, Onitsuka T, Satomura Y, Kasai K, Hashimoto R. Morita K, et al. Among authors: ito s. JMIR Ment Health. 2024 May 30;11:e56668. doi: 10.2196/56668. JMIR Ment Health. 2024. PMID: 38815257
Development of clinical and laboratory biomarkers in an international cohort of 428 children with lupus nephritis.
De Mutiis C, Wenderfer SE, Basu B, Bagga A, Orjuela A, Sar T, Aggarwal A, Jain A, Boyer O, Yap HK, Ito S, Ohnishi A, Iwata N, Kasapcopur O, Laurent A, Chan EY, Mastrangelo A, Ogura M, Shima Y, Rianthavorn P, Silva CA, Trindade V, Tullus K. De Mutiis C, et al. Among authors: ito s. Pediatr Nephrol. 2024 May 28. doi: 10.1007/s00467-024-06405-6. Online ahead of print. Pediatr Nephrol. 2024. PMID: 38802607
9,209 results