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Diagnostic performance of automated, streamlined, daily updated exome analysis in patients with neurodevelopmental delay.
Seo, Go Hun; Lee, Hane; Lee, Jungsul; Han, Heonjong; Cho, You Kyung; Kim, Minji; Choi, Yunha; Choi, Jeongmin; Choi, In Hee; Rhie, Seonkyeong; Chae, Kyu Young; Kim, Yoo-Mi; Cheon, Chong Kun; Kim, Su Jin; Lee, Jieun; Kang, Eungu; Byeon, Jung Hye; Yu, Hee Joon; Shin, Young-Lim; Oh, Arum; Kim, Woo Jin; Yum, Mi-Sun; Lee, Beom Hee; Eun, Baik-Lin.
Afiliação
  • Seo GH; 3billion Inc., Seoul, South Korea.
  • Lee H; 3billion Inc., Seoul, South Korea.
  • Lee J; 3billion Inc., Seoul, South Korea.
  • Han H; 3billion Inc., Seoul, South Korea.
  • Cho YK; 3billion Inc., Seoul, South Korea.
  • Kim M; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.
  • Choi Y; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea.
  • Choi J; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
  • Choi IH; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea.
  • Rhie S; Department of Pediatrics, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, South Korea.
  • Chae KY; Department of Pediatrics, CHA Bundang Medical Center, CHA University School of Medicine, Seongnam, South Korea.
  • Kim YM; Department of Pediatrics, Chungnam National University Sejong Hospital, Sejong, South Korea.
  • Cheon CK; Department of Pediatrics, Pusan National University Children's Hospital, Yangsan, Korea.
  • Kim SJ; Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, South Korea.
  • Lee J; Department of Pediatrics, Inha University Hospital, Inha University College of Medicine, Incheon, South Korea.
  • Kang E; Department of Pediatrics, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 08308, South Korea.
  • Byeon JH; Department of Pediatrics, Korea University Guro Hospital, 148 Gurodong-ro, Guro-gu, Seoul, 08308, South Korea.
  • Yu HJ; Department of Pediatrics, Hallym University College of Medicine, Hwasung, South Korea.
  • Shin YL; Department of Pediatrics, Soonchunhyang University Bucheon Hospital, Soonchunhyang University School of Medicine, Bucheon, South Korea.
  • Oh A; Department of Pediatrics, Chungbuk National University Hospital, Chungbuk National University College of Medicine, Cheongju, South Korea.
  • Kim WJ; Department of Laboratory Medicine, EONE Laboratories, Seoul, South Korea.
  • Yum MS; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea. misun.yum@gmail.com.
  • Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-Gil, Songpa-Gu, Seoul, 05505, South Korea. bhlee@amc.seoul.kr.
  • Eun BL; Medical Genetics Center, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. bhlee@amc.seoul.kr.
Mol Med ; 28(1): 38, 2022 03 26.
Article em En | MEDLINE | ID: mdl-35346031

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Testes Genéticos / Exoma Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article