Search

Author/Creator Akutsu, Yuko

1. A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation. Issue 5 (21st April 2018)

Authors:
Akutsu, Yuko; Shirai, Kentaro; Takei, Akira; Goto, Yudai; Aoyama, Tomohiro; Watanabe, Akimitu; Imamura, Masatoshi; Enokizono, Takashi; Ohto, Tatsuyuki; Hori, Tetsuo; Suzuki, Keiko; Hayashi, Masaharu; Masumoto, Kouji; Inoue, Ken
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 5(2018)
Page Start:
1195
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Somatic mutation in RUNX1 underlies mucocutaneus inflammatory manifestations. (16th September 2021)

Authors:
Okano, Tsubasa; Nishimura, Akira; Inoue, Kento; Naruto, Takuya; Tokoro, Shown; Tomoda, Takahiro; Kamiya, Takahiro; Simbo, Asami; Akutsu, Yuko; Okamoto, Keisuke; Yeh, Tzuwen; Isoda, Takeshi; Yanagimachi, Masakatsu; Kajiwara, Michiko; Imai, Kohsuke; Kanegane, Hirokazu; Mori, Masaaki; Morio, Tomohir...
Journal:
Rheumatology
Issue:
Volume 60:Number 12(2021)
Page Start:
e429
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗