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Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations.
Mokrani-Benhelli H, Gaillard L, Biasutto P, Le Guen T, Touzot F, Vasquez N, Komatsu J, Conseiller E, Pïcard C, Gluckman E, Francannet C, Fischer A, Durandy A, Soulier J, de Villartay JP, Cavazzana-Calvo M, Revy P. Mokrani-Benhelli H, et al. Among authors: komatsu j. Hum Mutat. 2013 Feb;34(2):374-84. doi: 10.1002/humu.22245. Epub 2012 Dec 20. Hum Mutat. 2013. PMID: 23111928
Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.
Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang JC, Bensimon A, Anguiano A, Jaremko M, Wang Z, Batish S, Strom C, Higgins J. Vasale J, et al. Among authors: komatsu j. Neuromuscul Disord. 2015 Dec;25(12):945-51. doi: 10.1016/j.nmd.2015.08.008. Epub 2015 Aug 21. Neuromuscul Disord. 2015. PMID: 26420234
Takotsubo Syndrome in Older Men　- Clinical Characteristics Differ by Sex and Age.
Nishimura YK, Komatsu J, Sugane H, Hosoda H, Imai RI, Nakaoka Y, Nishida K, Seki SI, Kubo T, Kitaoka H, Kubokawa SI, Kawai K, Hamashige N, Doi Y. Nishimura YK, et al. Among authors: komatsu j. Circ Rep. 2024 May 25;6(6):201-208. doi: 10.1253/circrep.CR-23-0093. eCollection 2024 Jun 10. Circ Rep. 2024. PMID: 38860182 Free PMC article.
135 results