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Page 1
Update of the genotype and phenotype of KMT2D and KDM6A by genetic screening of 100 patients with clinically suspected Kabuki syndrome.
Murakami H, Tsurusaki Y, Enomoto K, Kuroda Y, Yokoi T, Furuya N, Yoshihashi H, Minatogawa M, Abe-Hatano C, Ohashi I, Nishimura N, Kumaki T, Enomoto Y, Naruto T, Iwasaki F, Harada N, Ishikawa A, Kawame H, Sameshima K, Yamaguchi Y, Kobayashi M, Tominaga M, Ishikiriyama S, Tanaka T, Suzumura H, Ninomiya S, Kondo A, Kaname T, Kosaki K, Masuno M, Kuroki Y, Kurosawa K. Murakami H, et al. Among authors: kuroki y. Am J Med Genet A. 2020 Oct;182(10):2333-2344. doi: 10.1002/ajmg.a.61793. Epub 2020 Aug 17. Am J Med Genet A. 2020. PMID: 32803813
Trends in occurrence of twin births in Japan.
Kurosawa K, Masuno M, Kuroki Y. Kurosawa K, et al. Among authors: kuroki y. Am J Med Genet A. 2012 Jan;158A(1):75-7. doi: 10.1002/ajmg.a.34362. Epub 2011 Nov 21. Am J Med Genet A. 2012. PMID: 22106070
Autosomal dominant inheritance in Setleis syndrome.
Masuno M, Imaizumi K, Makita Y, Nakamura M, Kuroki Y. Masuno M, et al. Among authors: kuroki y. Am J Med Genet. 1995 May 22;57(1):57-60. doi: 10.1002/ajmg.1320570113. Am J Med Genet. 1995. PMID: 7645599
Epidemiology of limb-body wall complex in Japan.
Kurosawa K, Imaizumi K, Masuno M, Kuroki Y. Kurosawa K, et al. Among authors: kuroki y. Am J Med Genet. 1994 Jun 1;51(2):143-6. doi: 10.1002/ajmg.1320510212. Am J Med Genet. 1994. PMID: 8092190
Hypoglycemia in Coffin-Siris syndrome.
Imaizumi K, Nakamura M, Masuno M, Makita Y, Kuroki Y. Imaizumi K, et al. Among authors: kuroki y. Am J Med Genet. 1995 Oct 23;59(1):49-50. doi: 10.1002/ajmg.1320590111. Am J Med Genet. 1995. PMID: 8849011
Male with type II autosomal recessive cutis laxa.
Imaizumi K, Kurosawa K, Makita Y, Masuno M, Kuroki Y. Imaizumi K, et al. Among authors: kuroki y. Clin Genet. 1994 Jan;45(1):40-3. doi: 10.1111/j.1399-0004.1994.tb03988.x. Clin Genet. 1994. PMID: 8149651
Paternal UPD14 is responsible for a distinctive malformation complex.
Kurosawa K, Sasaki H, Sato Y, Yamanaka M, Shimizu M, Ito Y, Okuyama T, Matsuo M, Imaizumi K, Kuroki Y, Nishimura G. Kurosawa K, et al. Among authors: kuroki y. Am J Med Genet. 2002 Jul 1;110(3):268-72. doi: 10.1002/ajmg.10404. Am J Med Genet. 2002. PMID: 12116236
725 results