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Whole genome sequencing of 45 Japanese patients with intellectual disability.
Abe-Hatano, Chihiro; Iida, Aritoshi; Kosugi, Shunichi; Momozawa, Yukihide; Terao, Chikashi; Ishikawa, Keiko; Okubo, Mariko; Hachiya, Yasuo; Nishida, Hiroya; Nakamura, Kazuyuki; Miyata, Rie; Murakami, Chie; Takahashi, Kan; Hoshino, Kyoko; Sakamoto, Haruko; Ohta, Sayaka; Kubota, Masaya; Takeshita, Eri; Ishiyama, Akihiko; Nakagawa, Eiji; Sasaki, Masayuki; Kato, Mitsuhiro; Matsumoto, Naomichi; Kamatani, Yoichiro; Kubo, Michiaki; Takahashi, Yoshiyuki; Natsume, Jun; Inoue, Ken; Goto, Yu-Ichi.
Afiliação
  • Abe-Hatano C; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Iida A; Department of Pediatrics, Nagoya University Graduate School of Medicine, Aichi, Japan.
  • Kosugi S; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Momozawa Y; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
  • Terao C; Laboratory for Genotyping Development, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
  • Ishikawa K; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
  • Okubo M; Clinical Research Center, Shizuoka General Hospital, Shizuoka, Japan.
  • Hachiya Y; The Department of Applied Genetics, The School of Pharmaceutical Sciences, University of Shizuoka, Shizuoka, Japan.
  • Nishida H; Medical Genome Center, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Nakamura K; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Miyata R; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Murakami C; Department of Neuropediatrics, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
  • Takahashi K; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Hoshino K; Department of Pediatrics, Tokyo-Kita Medical Center, Tokyo, Japan.
  • Sakamoto H; Department of Pediatrics, Kitakyusyu Children's Rehabilitation Center, Fukuoka, Japan.
  • Ohta S; Department of Pediatrics, Ome Municipal General Hospital, Tokyo, Japan.
  • Kubota M; Department of Pediatrics, Minami Wakayama Medical Center, Wakayama, Japan.
  • Takeshita E; Department of Neonatology, Japanese Red Cross Osaka Hospital, Osaka, Japan.
  • Ishiyama A; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Nakagawa E; Division of Neurology, National Center for Child Health and Development, Tokyo, Japan.
  • Sasaki M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Kato M; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Matsumoto N; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Kamatani Y; Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan.
  • Kubo M; Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata, Japan.
  • Takahashi Y; Department of Pediatrics, Showa University School of Medicine, Tokyo, Japan.
  • Natsume J; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Kanagawa, Japan.
  • Inoue K; Laboratory for Statistical and Translational Genetics, RIKEN Center for Integrative Medical Sciences, Kanagawa, Japan.
  • Goto YI; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
Am J Med Genet A ; 185(5): 1468-1480, 2021 05.
Article em En | MEDLINE | ID: mdl-33624935
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Tirosina Quinases / Proteínas Serina-Treonina Quinases / Predisposição Genética para Doença / Deficiência Intelectual Limite: Adolescent / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Tirosina Quinases / Proteínas Serina-Treonina Quinases / Predisposição Genética para Doença / Deficiência Intelectual Limite: Adolescent / Humans / Male País/Região como assunto: Asia Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: Japão