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内部出版物
Wiley电子期刊(4)
SpringerLink电子期刊(10)
NATURE电子期刊(5)
Elsevier电子期刊(16)
在“
NATURE电子期刊
”中,
命中:
5
条,耗时:小于0.01 秒
在所有数据库中总计命中:
35
条
1.
Ultra–sensitive droplet digital PCR for detecting a low–prevalence somatic GNAQ mutation in Sturge–Weber syndrome
作者:
Yuri Uchiyama
;
Mitsuko Nakashima
;
Satoshi Watanabe
;
Masakazu Miyajima
;
Masataka Taguri
;
Satoko Miyatake
;
Noriko Miyake
;
Hirotomo
Saitsu
;
Hiroyuki Mishima
;
Akira Kinoshita
;
Hajime Arai
;
Ko–ichiro Yoshiura
;
Naomichi Matsumoto
刊名:Scientific Reports
出版年:2016
2.
Impaired neuronal KCC2 function by biallelic SLC12A5 mutations in migrating focal seizures and severe developmental delay
作者:
Hirotomo
Saitsu
;
Miho Watanabe
;
Tenpei Akita
;
Chihiro Ohba
;
Kenji Sugai
;
Winnie Peitee Ong
;
Hideaki Shiraishi
;
Shota Yuasa
;
Hiroshi Matsumoto
;
Khoo Teik Beng
;
Shinji Saitoh
;
Satoko Miyatake
;
Mitsuko Nakashima
;
Noriko Miyake
;
Mitsuhiro Kato
;
Atsuo Fukuda
;
Naomichi Matsumoto
刊名:Scientific Reports
出版年:2016
3.
De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing
作者:
Hirotomo
Saitsu
;
Tenpei Akita
;
Jun Tohyama
;
Hadassa Goldberg-Stern
;
Yu Kobayashi
;
Roni Cohen
;
Mitsuhiro Kato
;
Chihiro Ohba
;
Satoko Miyatake
;
Yoshinori Tsurusaki
;
Mitsuko Nakashima
;
Noriko Miyake
;
Atsuo Fukuda
;
Naomichi Matsumoto
刊名:Scientific Reports
出版年:2015
4.
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
作者:
Hiroshi Doi
;
Masao Ushiyama
;
Takashi Baba
;
Katsuko Tani
;
Masaaki Shiina
;
Kazuhiro Ogata
;
Satoko Miyatake
;
Yoko Fukuda-Yuzawa
;
Shoji Tsuji
;
Mitsuko Nakashima
;
Yoshinori Tsurusaki
;
Noriko Miyake
;
Hirotomo
Saitsu
;
Shu-ichi Ikeda
;
Fumiaki Tanaka
;
Naomichi Matsumoto
;
Kunihiro Yoshida
关键词:
Disease genetics
;
Spinocerebellar ataxia
刊名:Scientific Reports
出版年:2014
5.
De novo SOX11 mutations cause Coffin–Siris syndrome
作者:
Yoshinori Tsurusaki
;
Eriko Koshimizu
;
Hirofumi Ohashi
;
Shubha Phadke
;
Ikuyo Kou
;
Masaaki Shiina
;
Toshifumi Suzuki
;
Nobuhiko Okamoto
;
Shintaro Imamura
;
Michiaki Yamashita
;
Satoshi Watanabe
;
Koh-ichiro Yoshiura
;
Hirofumi Kodera
;
Satoko Miyatake
;
Mitsuko Nakashima
;
Hirotomo
Saitsu
;
Kazuhiro Ogata
;
Shiro Ikegawa
;
Noriko Miyake
;
Naomichi Matsumoto
刊名:Nature Communications
出版年:2014
1
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作者(5)
按出版年细分(5)
2016年(2)
2015年(1)
2014年(2)
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