Výsledky vyhledávání - Ikuko Kondo

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  1. 1
    Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of multiple DNA diagnosis methods for nine mutations

    Screening of SLC25A13 mutations in early and late onset patients with citrin deficiency and in the Japanese population: Identification of two novel mutations and establishment of m... Autor Naoki Yamaguchi, Keiko Kobayashi, Tomotsugu Yasuda, Ikumi Nishi, Mikio Iijima, Masanori Nakagawa, Mitsuhiro Osame, Ikuko Kondo, Takeyori Saheki

    Vydáno 2002
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    Artigo
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  2. 2
    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies

    Mutation analysis of the SHOC2 gene in Noonan-like syndrome and in hematologic malignancies Autor Shoko Komatsuzaki, Yoko Aoki, Tetsuya Niihori, Nobuhiko Okamoto, Raoul C. M. Hennekam, Saskia Hopman, Hirofumi Ohashi, Seiji Mizuno, Yoriko Watanabe, Hotaka Kamasaki, Ikuko Kondo, Nobuko Moriyama, Kenji Kurosawa, Hiroshi Kawame, Ryuhei Okuyama, Masue Imaizumi, Takeshi Rikiishi, Shigeru Tsuchiya, Shigeo Kure, Yoichi Matsubara

    Vydáno 2010
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  3. 3
    An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protein with Spectrin Repeat and Rho Guanine-Nucleotide Exchange-Factor Domains

    An Autosomal Dominant Cerebellar Ataxia Linked to Chromosome 16q22.1 Is Associated with a Single-Nucleotide Substitution in the 5′ Untranslated Region of the Gene Encoding a Protei... Autor Kinya Ishikawa, Shuta Toru, Taiji Tsunemi, Mingshun Li, Kazuhiro Kobayashi, Takanori Yokota, Takeshi Amino, Kiyoshi Owada, Hiroto Fujigasaki, M Sakamoto, Hiroyuki Tomimitsu, M. Takashima, Jiro Kumagai, Yoshihiro Noguchi, Yoshiyuki Kawashima, Norio Ohkoshi, Gen Ishida, Manabu Gomyoda, Mari Yoshida, Yoshio Hashizume, Yuko Saito, Shigeo Murayama, Hiroshi Yamanouchi, Toshio Mizutani, Ikuko Kondo, Tatsushi Toda, Hidehiro Mizusawa

    Vydáno 2005
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  4. 4
    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

    Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11 Autor Christian R. Marshall, Edwin J. Young, Ariel M. Pani, Mary-Louise Freckmann, Yves Lacassie, Cédric Howald, Kristi K. Fitzgerald, Maarit Peippo, Colleen A. Morris, Kate Shane-Carson, Manuela Priolo, Masafumi Morimoto, Ikuko Kondo, Esra Manguoğlu, Sibel Berker-Karaüzüm, Patrick Edery, Holly H. Hobart, Carolyn Β. Mervis, Orsetta Zuffardi, Alexandre Reymond, Paige Kaplan, May Tassabehji, Ronald G. Gregg, Stephen W. Scherer, Lucy R. Osborne

    Vydáno 2008
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