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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: akagawa h. 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.
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: akagawa h. 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.
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: akagawa h. 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.
Correction: 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: akagawa h. J Hum Genet. 2024 May;69(5):223. doi: 10.1038/s10038-024-01238-5. J Hum Genet. 2024. PMID: 38459226 No abstract available.
137 results