Your browser doesn't support javascript.
loading
Pathogenic 12-kb copy-neutral inversion in syndromic intellectual disability identified by high-fidelity long-read sequencing.
Mizuguchi, Takeshi; Okamoto, Nobuhiko; Yanagihara, Keiko; Miyatake, Satoko; Uchiyama, Yuri; Tsuchida, Naomi; Hamanaka, Kohei; Fujita, Atsushi; Miyake, Noriko; Matsumoto, Naomichi.
Afiliación
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: tmizu@yokohama-cu.ac.jp.
  • Okamoto N; Department of Medical Genetics, Osaka Women's and Children's Hospital, Izumi, Osaka 594-1101, Japan.
  • Yanagihara K; Department of Pediatric Neurology, Osaka Women's and Children's Hospital, Izumi, Osaka 594-1101, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama 236-0004, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Genomics ; 113(1 Pt 2): 1044-1053, 2021 01.
Article en En | MEDLINE | ID: mdl-33157260
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Anomalías Craneofaciales / Inversión de Secuencia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Anomalías Craneofaciales / Inversión de Secuencia / Discapacidad Intelectual Tipo de estudio: Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: Genomics Asunto de la revista: GENETICA Año: 2021 Tipo del documento: Article