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Author Niikawa, Norio: 17

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2000-06-14 A 1.5-Mb PAC/BAC Contig Spanning the Prader-Willi Syndrome Critical Region (PWCR) Kondo, Shinji; Tomita, Hiroaki; Kishino, Tatsuya; Yoshiura, Kohichiro; Yamada, Koki; Soeda, Eiichi; Matsumoto, Naomichi; Ohta, Tohru; Fujii, Tohru; Niikawa, Norio 1329
2009-08-04 A strong association of axillary osmidrosis with the wet earwax type determined by genotyping of the ABCC11 gene. Nakano, Motoi; Miwa, Nobutomo; Hirano, Akiyoshi; Yoshiura, Koh-Ichiro; Niikawa, Norio 916
2010-01-15 A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 Tsuda, Masayoshi; Yamada, Takahiro; Mikoya, Tadashi; Sogabe, Izumi; Nakashima, Mitsuko; Minakami, Hisanori; Kishino, Tatsuya; Kinoshita, Akira; Niikawa, Norio; Hirano, Akiyoshi; Yoshiura, Koh-ichiro 684
1994-12 Cause of Death of A-bomb survivors in Nagasaki at early times of A-bomb explosion Mine, Mariko; Okumura, Yutaka; Kondo, Hisayoshi; Honda, Sumihisa; Yokota, Kenichi; Niikawa, Norio 514
2012-01 Evidence for Association of the rs17822931-A Allele in ABCC11 with a Decreased Risk of Estrogen Receptor-negative Breast Cancer Sosonkina, Nadiya; Starenki, Dmytro; Gorovenko, Nataliya; Gurtoviy, Vadim; Nakashima, Masahiro; Oikawa, Masahiro; Ohta, Tohru; Niikawa, Norio 729
2010-09 Familial brain arteriovenous malformation maps to 5p13-q14, 15q11-q13 or 18p11: linkage analysis with clipped fingernail DNA on high-density SNP array. Oikawa, Masahiro; Kuniba, Hideo; Kondoh, Tatsuro; Kinoshita, Akira; Nagayasu, Takeshi; Niikawa, Norio; Yoshiura, Koh-ichiro 916
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 2676
2008-01 A Genome-wide Linkage Analysis and Mutation Analysis of Hereditary Congenital Blepharoptosis in a Japanese Family Nakashima, Mitsuko; Nakano, Motoi; Hirano, Akiyoshi; Kishino, Tatsuya; Kondoh, Shinji; Miwa, Nobutomo; Niikawa, Norio; Yoshiura, Koh-ichiro 1278
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 1212
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 923
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 2293
1993-12 Mortality by Cause of Death of Survivors in Nagasaki at Early Time of A-bomb Explosion. Mine, Mariko; Okumura, Yutaka; Kondo, Hisayoshi; Honda, Sumihisa; Yokota, Kenichi; Niikawa, Norio 549
2013-01-02 Pharmacogenetics of human ABC transporter ABCC11: new insights into apocrine gland growth and metabolite secretion Ishikawa, Toshihisa; Toyoda, Yu; Yoshiura, Koh-ichiro; Niikawa, Norio 6349
1995-12 Relationships between low dose A-bomb radiation and examination results Kondo, Hisayoshi; Mine, Mariko; Yokota, Kenichi; Niikawa, Norio 514
1994-12 Relationships between low dose A-bomb radiation and examination results Kondo, Hisayoshi; Mine, Mariko; Yokota, Kenichi; Niikawa, Norio 524
2001-12-19 Special Report A Genetic Counseling System in Nagasaki Prefecture: The Course and Current Status of the Genetic Counseling Unit in Nagasaki University Hospital Matsumoto, Tadashi; Kondoh, Tatsuro; Niikawa, Norio; Maeda, Noriko; Ishimaru, Tadayuki 994
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 1599

 

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