DSpace university logo mark
Advanced Search
Japanese | English 

NAOSITE : Nagasaki University's Academic Output SITE >

Author Kondoh, Tatsuro: 15

Click each list header to sort the list

Select All
Date Title Author Download
2018-01-15 A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome Motokawa, Midori; Watanabe, Satoshi; Nakatomi, Akiko; Kondoh, Tatsuro; Matsumoto, Tadashi; Morifuji, Kanako; Sawada, Hirotake; Nishimura, Toyoki; Nunoi, Hiroyuki; Yoshiura, Koh-ichiro; Moriuchi, Hiroyuki; Dateki, Sumito 26
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 802
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 2478
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 1111
2017-10-01 Maternally derived 15q11.2-q13.1 duplication and H19-DMR hypomethylation in a patient with Silver–Russell syndrome Dateki, Sumito; Kagami, Masayo; Matsubara, Keiko; Izumi, Kei; Watanabe, Satoshi; Nakatomi, Akiko; Kondoh, Tatsuro; Fukami, Maki; Moriuchi, Hiroyuki 93
2008-08 Mirror duplication of chromosome 21 with complete phenotype of Down syndrome. Egashira, Masanori; Kondoh, Tatsuro; Kawara, Hiroki; Motomura, Hideki; Tagawa, Masato; Harada, Naoki; Moriuchi, Hiroyuki 1881
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 2169
2009-02 Probable Noonan syndrome in a boy without PTPN11 mutation, manifesting unusual complications. Sumi, Muneichiro; Ohno, Yasuharu; Sasaki, Rie; Kondoh, Tatsuro; Tagawa, Masato; Masuzaki, Hideaki; Moriuchi, Hiroyuki 812
1997-06-20 Review Article Children with Chronic Granulomatous Disease Tsuji, Yoshiro; Kondoh, Tatsuro; Quie, Paulg. 1124
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 951
2014-03 The relationship between physical signs of aging and social functioning in persons with Down syndrome in Japan Morifuji, Kanako; Matsumoto, Tadashi; Kondoh, Tatsuro; Nagae, Masaharu; Sasaki, Noriko; Miyahara, Harumi; Honda, Sumihisa; Tanaka, Goro; Moriuchi, Hiroyuki; Nakane, Hideyuki 571
2004-12-28 「遺伝」のイメージ:アンケート調査から 松本, 正; 森藤, 香奈子; 佐々木, 規子; 荒木, 美幸; 山崎, 真紀子; 宮原, 春美; 近藤, 達郎 1912
2003-12 「遺伝相談(カウンセリング)」公開講座を実施して 松本, 正; 堀井, 健一; 近藤, 達郎 1259
2003-12 一方のAlleleのみに変異を認めた若年型糖原病Ⅱ型(酸性α-glucosidase欠損症)の1例 松本, 正; 清水, 貴士; 土井, 知巳; 近藤, 達郎 1124
2003-06 米国の遺伝医療,遺伝サービス,及び遺伝教育の現状 近藤, 達郎; 松本, 正 1888

 

Valid XHTML 1.0! Copyright © 2006-2015 Nagasaki University Library - Feedback Powerd by DSpace