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Page 1
Mutations in TOP3A Cause a Bloom Syndrome-like Disorder.
Martin CA, Sarlós K, Logan CV, Thakur RS, Parry DA, Bizard AH, Leitch A, Cleal L, Ali NS, Al-Owain MA, Allen W, Altmüller J, Aza-Carmona M, Barakat BAY, Barraza-García J, Begtrup A, Bogliolo M, Cho MT, Cruz-Rojo J, Mundi Dhahrabi HA, Elcioglu NH, GOSgene, Gorman GS, Jobling R, Kesterton I, Kishita Y, Kohda M, Le Quesne Stabej P, Malallah AJ, Nürnberg P, Ohtake A, Okazaki Y, Pujol R, Ramirez MJ, Revah-Politi A, Shimura M, Stevens P, Taylor RW, Turner L, Williams H, Wilson C, Yigit G, Zahavich L, Alkuraya FS, Surralles J, Iglesias A, Murayama K, Wollnik B, Dattani M, Heath KE, Hickson ID, Jackson AP. Martin CA, et al. Among authors: kohda m. Am J Hum Genet. 2024 May 2;111(5):996. doi: 10.1016/j.ajhg.2024.04.008. Am J Hum Genet. 2024. PMID: 38701747 Free PMC article. No abstract available.
Reply to Morin: Cleaner fish have a concept of the self.
Kohda M, Sowersby W, Awata S, Sogawa S. Kohda M, et al. Proc Natl Acad Sci U S A. 2023 May 9;120(19):e2303923120. doi: 10.1073/pnas.2303923120. Epub 2023 May 1. Proc Natl Acad Sci U S A. 2023. PMID: 37126680 Free PMC article. No abstract available.
Establishment of preanalytical conditions for microRNA profile analysis of clinical plasma samples.
Suzuki K, Yamaguchi T, Kohda M, Tanaka M, Takemura H, Wakita M, Tabe Y, Kato S, Nasu M, Hashimoto T, Mine S, Serizawa N, Tomishima K, Nagahara A, Matsuda T, Yamaji T, Tsugane S, Saito Y, Daiko H, Yoshikawa T, Kato K, Okusaka T, Ochiya T, Yamamoto Y, Yotsui S, Yamamoto T, Yamasaki T, Miyata H, Yasui M, Omori T, Ohkawa K, Ikezawa K, Nakabori T, Sugimoto N, Kudo T, Yoshida K, Ohue M, Nishizawa T. Suzuki K, et al. Among authors: kohda m. PLoS One. 2022 Dec 14;17(12):e0278927. doi: 10.1371/journal.pone.0278927. eCollection 2022. PLoS One. 2022. PMID: 36516194 Free PMC article.
A Japanese patient with neonatal biotin-responsive basal ganglia disease.
Kobayashi M, Suzuki Y, Nodera M, Matsunaga A, Kohda M, Okazaki Y, Murayama K, Yamagata T, Osaka H. Kobayashi M, et al. Among authors: kohda m. Hum Genome Var. 2022 Sep 29;9(1):35. doi: 10.1038/s41439-022-00210-z. Hum Genome Var. 2022. PMID: 36175418 Free PMC article.
162 results