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Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases.
Kim, Man Jin; Kim, Soo Yeon; Lee, Jin Sook; Kang, Sanggoo; Park, Lae-Jeong; Choi, Wooyong; Jung, Ju Yeol; Kim, Taehyung; Park, Sung Sup; Ko, Jung Min; Seong, Moon-Woo; Chae, Jong Hee.
Afiliação
  • Kim MJ; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
  • Kim SY; Rare Disease Center, Seoul National University Hospital, Seoul, Korea.
  • Lee JS; Department of Genomic Medicine, Seoul National University Hospital, Seoul, Korea.
  • Kang S; Rare Disease Center, Seoul National University Hospital, Seoul, Korea.
  • Park LJ; Department of Pediatrics, Department of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea.
  • Choi W; MedySapiens, Inc., Seoul, Korea.
  • Jung JY; Department of Electrical Engineering, Gangneung-Wonju National University, Gangneung, Korea.
  • Kim T; MedySapiens, Inc., Seoul, Korea.
  • Park SS; MedySapiens, Inc., Seoul, Korea.
  • Ko JM; MedySapiens, Inc., Seoul, Korea.
  • Seong MW; Department of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
  • Chae JH; Rare Disease Center, Seoul National University Hospital, Seoul, Korea.
Ann Lab Med ; 43(3): 280-289, 2023 May 01.
Article em En | MEDLINE | ID: mdl-36544340
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Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Distúrbios Congênitos do Ciclo da Ureia / Acidemia Propiônica / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Humans / Newborn Idioma: En Revista: Ann Lab Med Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Bases de dados: MEDLINE Assunto principal: Distúrbios Congênitos do Ciclo da Ureia / Acidemia Propiônica / Erros Inatos do Metabolismo Tipo de estudo: Diagnostic_studies / Observational_studies / Risk_factors_studies Limite: Humans / Newborn Idioma: En Revista: Ann Lab Med Ano de publicação: 2023 Tipo de documento: Article