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Author Miyake, Noriko: 5

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2005-05 Four Novel NIPBL Mutations in Japanese Patients With Cornelia de Lange Syndrome Miyake, Noriko; Harada, Naoki; Okamoto, Nobuhiko; Sonoda, Tohru; Naritomi, Kenji; Chinen, Yasutsugu; Kaname, Tadashi; Tonoki, Hidefumi; Kondoh, Tatsuro; Kurosawa, Kenji; Visser, Remco; Kinoshita, Akira; Yoshiura, Ko-ichiro; Niikawa, Norio; Matsumoto, Naomichi 2755
2008-07 Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. Kuniba, Hideo; Tsuda, Masayoshi; Nakashima, Mitsuko; Miura, Shoko; Miyake, Noriko; Kondoh, Tatsuro; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Naritomi, Kenji; Matsumoto, Naomichi; Kinoshita, Akira; Yoshiura, Koh-ichiro; Niikawa, Norio 1263
2007-03 Less Frequent NSD1-Intragenic Deletions in Japanese Sotos Syndrome: Analysis of 30 Patients by NSD1-Exon Array CGH, Quantitative Fluorescent Duplex PCR, and Fluorescence In Situ Hybridization Sosonkina, Nadiya; Miyake, Noriko; Harada, Naoki; Starenki, Dmytro; Ohta, Tohru; Fukushima, Yoshimitsu; Kosho, Tomoki; Niikawa, Norio; Matsumoto, Naomichi 945
2009-05 Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. Kuniba, Hideo; Yoshiura, Koh-Ichiro; Kondoh, Tatsuro; Ohashi, Hirofumi; Kurosawa, Kenji; Tonoki, Hidefumi; Nagai, Toshiro; Okamoto, Nobuhiko; Kato, Mitsuhiro; Fukushima, Yoshimitsu; Kaname, Tadashi; Naritomi, Kenji; Matsumoto, Tadashi; Moriuchi, Hiroyuki; Kishino, Tatsuya; Kinoshita, Akira; Miyake, Noriko; Matsumoto, Naomichi; Niikawa, Norio 2329
2008-07-15 Unsuccessful Identification of Mutations in Genes Involving the RAS-MAPK Pathway among 30 Patients with Kabuki Syndrome Kuniba, Hideo; Sato, Daisuke; Yoshiura, Koh-ichiro; Ohashi, Hirofumi; Kurosawa, Kenji; Miyake, Noriko; Kondoh, Tasturo; Matsumoto, Tadashi; Nagai, Toshiro; Okamoto, Nobuhiko; Fukushima, Yoshimitsu; Naritomi, Kenji; Matsumoto, Naomichi; Niikawa, Norio 1637

 

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