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Page 1
Radiological evolution in IMAGe association: a case report.
Amano N, Naoaki H, Ishii T, Narumi S, Hachiya R, Nishimura G, Hasegawa T. Amano N, et al. Among authors: nishimura g. Am J Med Genet A. 2008 Aug 15;146A(16):2130-3. doi: 10.1002/ajmg.a.32425. Am J Med Genet A. 2008. PMID: 18627061
Mutation analysis of SOX9 and single copy number variant analysis of the upstream region in eight patients with campomelic dysplasia and acampomelic campomelic dysplasia.
Wada Y, Nishimura G, Nagai T, Sawai H, Yoshikata M, Miyagawa S, Hanita T, Sato S, Hasegawa T, Ishikawa S, Ogata T. Wada Y, et al. Among authors: nishimura g. Am J Med Genet A. 2009 Dec;149A(12):2882-5. doi: 10.1002/ajmg.a.33107. Am J Med Genet A. 2009. PMID: 19921652 No abstract available.
Various types of LRP5 mutations in four patients with osteoporosis-pseudoglioma syndrome: identification of a 7.2-kb microdeletion using oligonucleotide tiling microarray.
Narumi S, Numakura C, Shiihara T, Seiwa C, Nozaki Y, Yamagata T, Momoi MY, Watanabe Y, Yoshino M, Matsuishi T, Nishi E, Kawame H, Akahane T, Nishimura G, Emi M, Hasegawa T. Narumi S, et al. Among authors: nishimura g. Am J Med Genet A. 2010 Jan;152A(1):133-40. doi: 10.1002/ajmg.a.33177. Am J Med Genet A. 2010. PMID: 20034086
De novo deletion of 1q24.3-q31.2 in a patient with severe growth retardation.
Nishimura A, Hiraki Y, Shimoda H, Nishimura G, Tadaki H, Tsurusaki Y, Miyake N, Saitsu H, Matsumoto N. Nishimura A, et al. Among authors: nishimura g. Am J Med Genet A. 2010 May;152A(5):1322-5. doi: 10.1002/ajmg.a.33371. Am J Med Genet A. 2010. PMID: 20425845 No abstract available.
Ruvalcaba syndrome revisited.
Adachi M, Muroya K, Asakura Y, Kurosawa K, Nishimura G, Narumi S, Hasegawa T. Adachi M, et al. Among authors: nishimura g. Am J Med Genet A. 2010 Jul;152A(7):1854-7. doi: 10.1002/ajmg.a.33429. Am J Med Genet A. 2010. PMID: 20583188 No abstract available.
719 results