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Year Number of Results
2013 1
2014 4
2015 3
2016 1
2017 1
2018 1
2019 1
2020 2
2021 2
2022 1
2023 1
2024 1

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16 results

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Page 1
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, Sasaki M, Sakai Y, Miyake N, Miyatake S, Tsuchida N, Iwama K, Minase G, Sekiguchi F, Fujita A, Imagawa E, Koshimizu E, Uchiyama Y, Hamanaka K, Ohba C, Itai T, Aoi H, Saida K, Sakaguchi T, Den K, Takahashi R, Ikeda H, Yamaguchi T, Tsukamoto K, Yoshitomi S, Oboshi T, Imai K, Kimizu T, Kobayashi Y, Kubota M, Kashii H, Baba S, Iai M, Kira R, Hara M, Ohta M, Miyata Y, Miyata R, Takanashi JI, Matsui J, Yokochi K, Shimono M, Amamoto M, Takayama R, Hirabayashi S, Aiba K, Matsumoto H, Nabatame S, Shiihara T, Kato M, Matsumoto N. Takata A, et al. Among authors: kimizu t. Nat Commun. 2019 Jun 7;10(1):2506. doi: 10.1038/s41467-019-10482-9. Nat Commun. 2019. PMID: 31175295 Free PMC article.
Newborn screening for spinal muscular atrophy in Osaka -challenges in a Japanese pilot study.
Kimizu T, Ida S, Oki K, Shima M, Nishimoto S, Nakajima K, Ikeda T, Mogami Y, Yanagihara K, Matsuda K, Nishi E, Hasegawa Y, Nozaki M, Fujita H, Irie A, Katayama T, Okamoto N, Imai K, Nishio H, Suzuki Y. Kimizu T, et al. Brain Dev. 2023 Aug;45(7):363-371. doi: 10.1016/j.braindev.2023.03.004. Epub 2023 Mar 25. Brain Dev. 2023. PMID: 36973114
[Rasmussen syndrome (encephalitis)].
Takahashi Y, Kimizu T, Koike T, Horino A, Nakagawa N. Takahashi Y, et al. Among authors: kimizu t. Nihon Rinsho. 2015 Sep;73 Suppl 7:619-25. Nihon Rinsho. 2015. PMID: 26480767 Japanese. No abstract available.
Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan.
Kimizu T, Ida S, Okamoto K, Awano H, Niba ETE, Wijaya YOS, Okazaki S, Shimomura H, Lee T, Tominaga K, Nabatame S, Saito T, Hamazaki T, Sakai N, Saito K, Shintaku H, Nozu K, Takeshima Y, Iijima K, Nishio H, Shinohara M. Kimizu T, et al. Int J Neonatal Screen. 2021 Jul 20;7(3):45. doi: 10.3390/ijns7030045. Int J Neonatal Screen. 2021. PMID: 34287247 Free PMC article.
Multiplex Real-Time PCR-Based Newborn Screening for Severe Primary Immunodeficiency and Spinal Muscular Atrophy in Osaka, Japan: Our Results after 3 Years.
Kimizu T, Nozaki M, Okada Y, Sawada A, Morisaki M, Fujita H, Irie A, Matsuda K, Hasegawa Y, Nishi E, Okamoto N, Kawai M, Imai K, Suzuki Y, Wada K, Mitsuda N, Ida S. Kimizu T, et al. Genes (Basel). 2024 Feb 28;15(3):314. doi: 10.3390/genes15030314. Genes (Basel). 2024. PMID: 38540372 Free PMC article.
16 results