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Genomic analysis identifies candidate pathogenic variants in 9 of 18 patients with unexplained West syndrome.
Hino-Fukuyo, Naomi; Kikuchi, Atsuo; Arai-Ichinoi, Natsuko; Niihori, Tetsuya; Sato, Ryo; Suzuki, Tasuku; Kudo, Hiroki; Sato, Yuko; Nakayama, Tojo; Kakisaka, Yosuke; Kubota, Yuki; Kobayashi, Tomoko; Funayama, Ryo; Nakayama, Keiko; Uematsu, Mitsugu; Aoki, Yoko; Haginoya, Kazuhiro; Kure, Shigeo.
Affiliation
  • Hino-Fukuyo N; Department of Pediatrics, Tohoku University School of Medicine, 1-1 Seiryo-machi, Aoba-ku, Sendai, Miyagi, 980-8574, Japan.
Hum Genet ; 134(6): 649-58, 2015 Jun.
Article in En | MEDLINE | ID: mdl-25877686
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Transcription Factors / Calcium Channels / Chromosomes, Human / COUP Transcription Factor I / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Hum Genet Year: 2015 Type: Article Affiliation country: Japan
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spasms, Infantile / Transcription Factors / Calcium Channels / Chromosomes, Human / COUP Transcription Factor I / Mutation Type of study: Prognostic_studies Limits: Female / Humans / Infant / Male Language: En Journal: Hum Genet Year: 2015 Type: Article Affiliation country: Japan