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Year Number of Results
2008 1
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2010 1
2011 1
2012 2
2013 1
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2022 2
2023 3
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24 results

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Page 1
Dystonic Tremor in Adult-onset DYT-KMT2B.
Shimazaki R, Ikezawa J, Okiyama R, Azuma K, Akagawa H, Takahashi K. Shimazaki R, et al. Among authors: azuma k. Intern Med. 2022 Aug 1;61(15):2357-2360. doi: 10.2169/internalmedicine.8700-21. Epub 2022 Jan 13. Intern Med. 2022. PMID: 35022352 Free PMC article.
Difference in Clinical Phenotype, Mutation Position, and Structural Change of RNF213 Rare Variants Between Pediatric and Adult Japanese Patients with Moyamoya Disease.
Nomura S, Akagawa H, Yamaguchi K, Azuma K, Nakamura A, Fukui A, Matsuzawa F, Aihara Y, Ishikawa T, Moteki Y, Chiba K, Hashimoto K, Morita S, Ishiguro T, Okada Y, Vetiska S, Andrade-Barazarte H, Radovanovic I, Kawashima A, Kawamata T. Nomura S, et al. Among authors: azuma k. Transl Stroke Res. 2023 Sep 28. doi: 10.1007/s12975-023-01194-w. Online ahead of print. Transl Stroke Res. 2023. PMID: 37768541
Variant spectrum of PIEZO1 and KCNN4 in Japanese patients with dehydrated hereditary stomatocytosis.
Nakahara E, Yamamoto KS, Ogura H, Aoki T, Utsugisawa T, Azuma K, Akagawa H, Watanabe K, Muraoka M, Nakamura F, Kamei M, Tatebayashi K, Shinozuka J, Yamane T, Hibino M, Katsura Y, Nakano-Akamatsu S, Kadowaki N, Maru Y, Ito E, Ohga S, Yagasaki H, Morioka I, Yamamoto T, Kanno H. Nakahara E, et al. Among authors: azuma k. Hum Genome Var. 2023 Mar 2;10(1):8. doi: 10.1038/s41439-023-00235-y. Hum Genome Var. 2023. PMID: 36864026 Free PMC article.
Predisposed genomic instability in pre-treatment bone marrow evolves to therapy-related myeloid neoplasms in malignant lymphoma.
Katagiri S, Makishima H, Azuma K, Nannya Y, Saitoh Y, Yoshizawa S, Akahane D, Fujimoto H, Ito Y, Velaga R, Umezu T, Ohyashiki JH, Ogawa S, Ohyashiki K. Katagiri S, et al. Among authors: azuma k. Haematologica. 2020 Jul;105(7):e337-e339. doi: 10.3324/haematol.2019.229856. Epub 2019 Nov 7. Haematologica. 2020. PMID: 31699793 Free PMC article. No abstract available.
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease.
Inoue T, Takase R, Uchida K, Kodo K, Suda K, Watanabe Y, Yoshiura KI, Kunimatsu M, Ishizaki R, Azuma K, Inai K, Muneuchi J, Furutani Y, Akagawa H, Yamagishi H. Inoue T, et al. Among authors: azuma k. J Hum Genet. 2024 May;69(5):215-222. doi: 10.1038/s10038-024-01225-w. Epub 2024 Feb 26. J Hum Genet. 2024. PMID: 38409496 Free PMC article.
24 results