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Pathogenic variants detected by RNA sequencing in Cornelia de Lange syndrome.
Seyama, Rie; Uchiyama, Yuri; Ceroni, José Ricard Magliocco; Kim, Veronica Eun Hue; Furquim, Isabel; Honjo, Rachel Sayuri; Castro, Matheus Augusto Araujo; Pires, Lucas Vieira Lacerda; Aoi, Hiromi; Iwama, Kazuhiro; Hamanaka, Kohei; Fujita, Atsushi; Tsuchida, Naomi; Koshimizu, Eriko; Misawa, Kazuharu; Miyatake, Satoko; Mizuguchi, Takeshi; Makino, Shintaro; Itakura, Atsuo; Bertola, Débora R; Kim, Chong Ae; Matsumoto, Naomichi.
Afiliação
  • Seyama R; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
  • Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Ceroni JRM; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Kim VEH; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Furquim I; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Honjo RS; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Castro MAA; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Pires LVL; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Aoi H; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
  • Iwama K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Neonatal Medicine, Yokohama City University Medical Center, Yokohama, Japan.
  • Hamanaka K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Fujita A; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Tsuchida N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Rare Disease Genomics, Yokohama City University Hospital, Yokohama, Japan.
  • Koshimizu E; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Misawa K; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Miyatake S; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Department of Clinical Genetics, Yokohama City University Hospital, Yokohama, Japan.
  • Mizuguchi T; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
  • Makino S; Department of Obstetrics and Gynecology, Juntendo University Urayasu Hospital, Urayasu, Japan.
  • Itakura A; Department of Obstetrics and Gynecology, Juntendo University, Tokyo, Japan.
  • Bertola DR; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Kim CA; Genetics Unit, Instituto da Crianca, Faculdade de Medicina, Universidade de Sao Paulo, Brazil.
  • Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan. Electronic address: naomat@yokohama-cu.ac.jp.
Genomics ; 114(5): 110468, 2022 09.
Article em En | MEDLINE | ID: mdl-36041635
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Infecções por Vírus Epstein-Barr / Síndrome de Cornélia de Lange Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão
Texto completo
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PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Infecções por Vírus Epstein-Barr / Síndrome de Cornélia de Lange Tipo de estudo: Diagnostic_studies / Prognostic_studies Limite: Humans Idioma: En Revista: Genomics Assunto da revista: GENETICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Japão