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Identification of a novel missense mutation of MAF in a Japanese family with congenital cataract by whole exome sequencing: a clinical report and review of literature.
Narumi Y, Nishina S, Tokimitsu M, Aoki Y, Kosaki R, Wakui K, Azuma N, Murata T, Takada F, Fukushima Y, Kosho T. Narumi Y, et al. Among authors: fukushima y. Am J Med Genet A. 2014 May;164A(5):1272-6. doi: 10.1002/ajmg.a.36433. Epub 2014 Mar 24. Am J Med Genet A. 2014. PMID: 24664492 Review.
Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation.
Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y. Yamazaki M, et al. Among authors: fukushima y. Am J Med Genet A. 2010 Mar;152A(3):764-9. doi: 10.1002/ajmg.a.33315. Am J Med Genet A. 2010. PMID: 20186812
Delineation of dermatan 4-O-sulfotransferase 1 deficient Ehlers-Danlos syndrome: observation of two additional patients and comprehensive review of 20 reported patients.
Shimizu K, Okamoto N, Miyake N, Taira K, Sato Y, Matsuda K, Akimaru N, Ohashi H, Wakui K, Fukushima Y, Matsumoto N, Kosho T. Shimizu K, et al. Among authors: fukushima y. Am J Med Genet A. 2011 Aug;155A(8):1949-58. doi: 10.1002/ajmg.a.34115. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744491 Review.
Myelodysplastic syndrome in a child with 15q24 deletion syndrome.
Narumi Y, Shiohara M, Wakui K, Hama A, Kojima S, Yoshikawa K, Amano Y, Kosho T, Fukushima Y. Narumi Y, et al. Among authors: fukushima y. Am J Med Genet A. 2012 Feb;158A(2):412-6. doi: 10.1002/ajmg.a.34395. Epub 2011 Dec 2. Am J Med Genet A. 2012. PMID: 22140075
1,630 results