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J-GLOBAL ID：201902201543902114   整理番号：19S1366403

Spectrum of mutations and genotype-phenotype analysis in Noonan syndrome patients with RIT1 mutations

著者 (26件)： Yaoita, Masako (Department of Medical Genetics, Tohoku University School of Medicine) ,  Niihori, Tetsuya (Department of Medical Genetics, Tohoku University School of Medicine) ,  Inoue, Shin-ichi (Department of Medical Genetics, Tohoku University School of Medicine) ,  Aoki, Yoko (Department of Medical Genetics, Tohoku University School of Medicine) ,  Mizuno, Seiji (Department of Pediatrics, Central Hospital, Aichi Human Service Center) ,  Okamoto, Nobuhiko (Department of Medical Genetics, Osaka Medical Center, Research Institute for Maternal and Child Health) ,  Hayashi, Shion (Department of Neonatology, The Jikei University Hospital) ,  Watanabe, Atsushi (Division of Clinical Genetics, Nippon Medical School Hospital) ,  Yokozawa, Masato (Department of Pediatric Cardiology, Hokkaido Medical Center for Child Health and Rehabilitation) ,  Suzumura, Hiroshi (Department of Pediatrics, Dokkyo Medical University) ,  Nakahara, Akihiko (Department of Pediatrics, University of Miyazaki) ,  Nakano, Yusuke (Department of Cardiology, Nagano Children’s Hospital) ,  Hokosaki, Tatsunori (Department of Pediatrics, Yokohama City University Hospital) ,  Ohmori, Ayumi (Department of Pediatrics, Mie University) ,  Sawada, Hirofumi (Department of Pediatrics, Mie University) ,  Migita, Ohsuke (Department of Pediatrics, St. Marianna University School of Medicine) ,  Mima, Aya (Department of Pediatrics, Yodogawa Christian Hospital) ,  Lapunzina, Pablo (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital) ,  Santos-Simarro, Fernando (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital) ,  García-Miñaúr, Sixto (Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital) ,  Ogata, Tsutomu (Department of Pediatrics, Hamamatsu University School of Medicine) ,  Kawame, Hiroshi (Division of Genomic Medicine Support and Genetic Counseling, Tohoku Medical Megabank Organization, Tohoku University) ,  Kurosawa, Kenji (Division of Medical Genetics, Kanagawa Children’s Medical Center) ,  Ohashi, Hirofumi (Division of Medical Genetics, Saitama Children’s Medical Center) ,  Matsubara, Yoichi (National Research Institute for Child Health and Development) ,  Kure, Shigeo (Department of Pediatrics, Tohoku University School of Medicine)
資料名： Human Genetics
巻： 135  号： 2  ページ： 209-222  発行年： 2016年 
JST資料番号： SCOPUS  ISSN： 0340-6717  CODEN： HUGED 
発行国： ドイツ (DEU)  言語： 英語 (EN)

タイトルに関連する用語 (1件)： Rit1