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Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.
Enomoto Y, Yokoi T, Tsurusaki Y, Murakami H, Tominaga M, Minatogawa M, Abe-Hatano C, Kuroda Y, Ohashi I, Ida K, Shiiya S, Kumaki T, Naruto T, Mitsui J, Harada N, Kido Y, Kurosawa K. Enomoto Y, et al. Among authors: kuroda y. Clin Genet. 2022 Mar;101(3):335-345. doi: 10.1111/cge.14103. Epub 2022 Jan 4. Clin Genet. 2022. PMID: 34958122
West syndrome in a patient with Schinzel-Giedion syndrome.
Miyake F, Kuroda Y, Naruto T, Ohashi I, Takano K, Kurosawa K. Miyake F, et al. Among authors: kuroda y. J Child Neurol. 2015 Jun;30(7):932-6. doi: 10.1177/0883073814541468. Epub 2014 Jul 14. J Child Neurol. 2015. PMID: 25028416
A postzygotic NRAS mutation in a patient with Schimmelpenning syndrome.
Kuroda Y, Ohashi I, Enomoto Y, Naruto T, Baba N, Tanaka Y, Aida N, Okamoto N, Niihori T, Aoki Y, Kurosawa K. Kuroda Y, et al. Am J Med Genet A. 2015 Sep;167A(9):2223-5. doi: 10.1002/ajmg.a.37135. Epub 2015 Apr 25. Am J Med Genet A. 2015. PMID: 25914220 No abstract available.
Genetic and prenatal findings in two Japanese patients with Schinzel-Giedion syndrome.
Hishimura N, Watari M, Ohata H, Fuseya N, Wakiguchi S, Tokutomi T, Okuhara K, Takahashi N, Iizuka S, Yamamoto H, Mishima T, Fujieda S, Kobayashi R, Cho K, Kuroda Y, Kurosawa K, Tonoki H. Hishimura N, et al. Among authors: kuroda y. Clin Case Rep. 2016 Nov 17;5(1):5-8. doi: 10.1002/ccr3.738. eCollection 2017 Jan. Clin Case Rep. 2016. PMID: 28096980 Free PMC article.
2,957 results