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9,162 results

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Droplet digital polymerase chain reaction assay for the detection of the minor clone of KIT D816V in paediatric acute myeloid leukaemia especially showing RUNX1-RUNX1T1 transcripts.
Sasaki K, Tsujimoto S, Miyake M, Uchiyama Y, Ikeda J, Yoshitomi M, Shimosato Y, Tokumasu M, Matsuo H, Yoshida K, Ohki K, Kaburagi T, Yamato G, Hara Y, Takeuchi M, Kinoshita A, Tomizawa D, Taga T, Adachi S, Tawa A, Horibe K, Hayashi Y, Matsumoto N, Ito S, Shiba N. Sasaki K, et al. Among authors: ito s. Br J Haematol. 2021 Jul;194(2):414-422. doi: 10.1111/bjh.17569. Epub 2021 Jun 13. Br J Haematol. 2021. PMID: 34120331
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations.
Iwama K, Sasaki M, Hirabayashi S, Ohba C, Iwabuchi E, Miyatake S, Nakashima M, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: ito s. J Hum Genet. 2016 Jun;61(6):527-31. doi: 10.1038/jhg.2016.9. Epub 2016 Feb 18. J Hum Genet. 2016. PMID: 26888482
Diplotype analysis of NUDT15 variants and 6-mercaptopurine sensitivity in pediatric lymphoid neoplasms.
Tsujimoto S, Osumi T, Uchiyama M, Shirai R, Moriyama T, Nishii R, Yamada Y, Kudo K, Sekiguchi M, Arakawa Y, Yoshida M, Uchiyama T, Terui K, Ito S, Koh K, Takita J, Ito E, Tomizawa D, Manabe A, Kiyokawa N, Yang JJ, Kato M. Tsujimoto S, et al. Among authors: ito e, ito s. Leukemia. 2018 Dec;32(12):2710-2714. doi: 10.1038/s41375-018-0190-1. Epub 2018 Jul 2. Leukemia. 2018. PMID: 29967377 Free PMC article. No abstract available.
A novel SLC9A1 mutation causes cerebellar ataxia.
Iwama K, Osaka H, Ikeda T, Mitsuhashi S, Miyatake S, Takata A, Miyake N, Ito S, Mizuguchi T, Matsumoto N. Iwama K, et al. Among authors: ito s. J Hum Genet. 2018 Oct;63(10):1049-1054. doi: 10.1038/s10038-018-0488-x. Epub 2018 Jul 17. J Hum Genet. 2018. PMID: 30018422 Clinical Trial.
9,162 results