תוצאות חיפוש - Shinya Iwasawa
- Showing 1 - 3 results of 3
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1
A sublethal ATP11A mutation associated with neurological deterioration causes aberrant phosphatidylcholine flipping in plasma membranes מאת Katsumori Segawa, Atsuo Kikuchi, Tomoyasu Noji, Yuki Sugiura, Keita Hiraga, Chigure Suzuki, Kazuhiro Haginoya, Yasuko Kobayashi, Mitsuhiro Matsunaga, Yuki Ochiai, Kyoko Yamada, Takuo Nishimura, Shinya Iwasawa, Wataru Shoji, Fuminori Sugihara, Kohei Nishino, Hidetaka Kosako, Masahito Ikawa, Yasuo Uchiyama, Makoto Suematsu, Hiroshi Ishikita, Shigeo Kure, Shigekazu Nagata
יצא לאור 2021Artigo -
2
Biallelic GALM pathogenic variants cause a novel type of galactosemia מאת Yoichi Wada, Atsuo Kikuchi, Natsuko Arai‐Ichinoi, Osamu Sakamoto, Yusuke Takezawa, Shinya Iwasawa, Tetsuya Niihori, Hiromi Nyuzuki, Yoko Nakajima, Erika Ogawa, Mika Ishige, Hiroki Hirai, Hideo Sasai, Ryoji Fujiki, Matsuyuki Shirota, Ryo Funayama, Masayuki Yamamoto, Tetsuya Ito, Osamu Ohara, Keiko Nakayama, Yoko Aoki, S. Koshiba, Toshiyuki Fukao, Shigeo Kure
יצא לאור 2018Artigo -
3
Recurrent de novo <i>MAPK8IP3</i> variants cause neurological phenotypes מאת Shinya Iwasawa, Kumiko Yanagi, Atsuo Kikuchi, Yasuko Kobayashi, Kazuhiro Haginoya, Hiroshi Matsumoto, Kenji Kurosawa, Masayuki Ochiai, Yasunari Sakai, Atsushi Fujita, Noriko Miyake, Tetsuya Niihori, Matsuyuki Shirota, Ryo Funayama, Shigeaki Nonoyama, Shouichi Ohga, Hiroshi Kawame, Keiko Nakayama, Yoko Aoki, Naomichi Matsumoto, Tadashi Kaname, Yoichi Matsubara, Wataru Shoji, Shigeo Kure
יצא לאור 2019Artigo
כלי חיפוש:
נושאים קשורים
Biology
Gene
Biochemistry
Mutation
Acid sphingomyelinase
Biophysics
Cell biology
Chemistry
Enzyme
Exome sequencing
Galactose
Galactosemia
Genetics
In vitro
Medicine
Membrane
Molecular biology
Mutant
Peripheral blood mononuclear cell
Phenotype
Phosphatidylcholine
Phosphatidylserine
Phospholipid
Sanger sequencing
Sphingomyelin