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Heterozygous loss-of-function DHX9 variants are associated with neurodevelopmental disorders: Human genetic and experimental evidences.
Yamada, Mamiko; Nitta, Yohei; Uehara, Tomoko; Suzuki, Hisato; Miya, Fuyuki; Takenouchi, Toshiki; Tamura, Masaru; Ayabe, Shinya; Yoshiki, Atsushi; Maeno, Akiteru; Saga, Yumiko; Furuse, Tamio; Yamada, Ikuko; Okamoto, Nobuhiko; Kosaki, Kenjiro; Sugie, Atsushi.
Afiliação
  • Yamada M; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Nitta Y; Brain Research Institute, Niigata University, Niigata, Japan.
  • Uehara T; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Suzuki H; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Miya F; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
  • Takenouchi T; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
  • Tamura M; Mouse Phenotype Analysis Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, Japan.
  • Ayabe S; Experimental Animal Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, Japan.
  • Yoshiki A; Experimental Animal Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, Japan.
  • Maeno A; Cell Architecture Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan.
  • Saga Y; Mammalian Development Laboratory, Department of Gene Function and Phenomics, National Institute of Genetics, Mishima, Shizuoka, Japan.
  • Furuse T; Mouse Phenotype Analysis Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, Japan.
  • Yamada I; Mouse Phenotype Analysis Division, RIKEN BioResource Research Center, Tsukuba, Ibaraki, Japan.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka, Japan.
  • Kosaki K; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan. Electronic address: kkosaki@z3.keio.jp.
  • Sugie A; Brain Research Institute, Niigata University, Niigata, Japan. Electronic address: atsushi.sugie@bri.niigata-u.ac.jp.
Eur J Med Genet ; 66(8): 104804, 2023 Aug.
Article em En | MEDLINE | ID: mdl-37369308
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Transtornos do Neurodesenvolvimento / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2023 Tipo de documento: Article