Zobrazeno 1 - 10
of 10
pro vyhledávání: '"Akihiko Nakahara"'
Autor:
Toshio Ikeda, Jun Yoshimura, Ichizo Nishino, Jun Mitsui, Maiko Utoyama, Hiroyuki Nunoi, Akihiko Nakahara, Hiroyuki Ishiura, Tamayo Uechi, Shinichi Morishita, Shoji Tsuji, Rie Nagano, Hiroshi Moritake, Naoya Kenmochi, Koichiro Doi, Megumi Obara
Publikováno v:
Journal of Human Genetics. 62:473-480
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder caused by survival motor neuron gene mutations. Variant forms of SMA accompanied by additional clinical presentations have been classified as atypical SMA and are thou
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5333c43318f68148142d46479072520f
https://doi.org/10.1038/jhg.2016.149
https://doi.org/10.1038/jhg.2016.149
Autor:
Tsutomu Ogata, Sixto García-Miñaur, Nobuhiko Okamoto, Shion Hayashi, Atsushi Watanabe, Ohsuke Migita, Pablo Lapunzina, Masato Yokozawa, Hiroshi Suzumura, Hirofumi Ohashi, Fernando Santos-Simarro, Seiji Mizuno, Tetsuya Niihori, Yoko Aoki, Akihiko Nakahara, Yusuke Nakano, Shin Ichi Inoue, Ayumi Ohmori, Yoichi Matsubara, Tatsunori Hokosaki, Shigeo Kure, Hiroshi Kawame, Kenji Kurosawa, Hirofumi Sawada, Aya Mima, Masako Yaoita
Publikováno v:
Human Genetics. 135:209-222
RASopathies are autosomal dominant disorders caused by mutations in more than 10 known genes that regulate the RAS/MAPK pathway. Noonan syndrome (NS) is a RASopathy characterized by a distinctive facial appearance, musculoskeletal abnormalities, and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b5f5a494b5de125acff1b0c64afe5fb8
https://doi.org/10.1007/s00439-015-1627-5
https://doi.org/10.1007/s00439-015-1627-5
Autor:
Hiromi Sakaguchi, Akihiko Nakahara, Hiroyuki Nunoi, Takao Konomoto, Hideaki Imamura, Etsuko Tanaka, Mayuko Orita
Publikováno v:
Nihon Shoni Jinzobyo Gakkai Zasshi. 28:68-74
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::909ffdd1a62038ce834e0fec695d4e26
https://doi.org/10.3165/jjpn.28.68
https://doi.org/10.3165/jjpn.28.68
Autor:
Kiyotaka Suzuki, Yasukazu Yamada, Mari Miyazawa, Sayako Nozaki, Hiroshi Hasegawa, Takahiro Himeno, Ken Ishikawa, Takanori Ueda, Koei Oh, Osamu Namiki, Sayaka Yoshida, Makiko Nakamura, Akihiko Nakahara, Yoshihiko Shinohara, Kimiyoshi Ichida
Publikováno v:
Journal of Chromatography B. :55-60
Mutations in the gene encoding hypoxanthine-guanine phosphoribosyltransferase (HPRT) cause Lesch-Nyhan disease (LND) and its variants (LNV). Due to the technical problems for measuring the HPRT activity in vitro, discordances between the residual HPR
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9812f84310695d1fd1aae88312018fff
https://doi.org/10.1016/j.jchromb.2014.11.010
https://doi.org/10.1016/j.jchromb.2014.11.010
Publikováno v:
The Proceedings of the Dynamics & Design Conference. 2012:340-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9880d6de343fecbdeebbb3e386221ee5
https://doi.org/10.1299/jsmedmc.2012._340-1_
https://doi.org/10.1299/jsmedmc.2012._340-1_
Publikováno v:
The Proceedings of Conference of Kyushu Branch. :227-228
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::685420dec3ac1df3d4ca2945cec4a530
https://doi.org/10.1299/jsmekyushu.2011.64.227
https://doi.org/10.1299/jsmekyushu.2011.64.227
Publikováno v:
The Proceedings of the Dynamics & Design Conference. 2011:641-1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ba31d83ba75b20325236bf75f7880224
https://doi.org/10.1299/jsmedmc.2011._641-1_
https://doi.org/10.1299/jsmedmc.2011._641-1_
Publikováno v:
Bulletin of the Chemical Society of Japan. 42:3073-3075
The fluorescence spectrum of toluene in benzene has been photographed at 90°K and analyzed accurately. Systematic studies of concentrations made it possible to estimate the efficiency of energy transfer from the singlet state of the host molecule to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f15bffb1784f8d9cc50f8d0eceb6ed0a
https://doi.org/10.1246/bcsj.42.3073
https://doi.org/10.1246/bcsj.42.3073
Publikováno v:
The Journal of Chemical Physics. 50:552-554
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::fc4554603037c563850d3e1cab9b78e1
https://doi.org/10.1063/1.1670847
https://doi.org/10.1063/1.1670847
Publikováno v:
Chemischer Informationsdienst. Organische Chemie. 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::67fe00baea13aa935c243168e7fc7f8f
https://doi.org/10.1002/chin.197016004
https://doi.org/10.1002/chin.197016004