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Ultra-rare renal diseases diagnosed with whole-exome sequencing: Utility in diagnosis and management.
Jung, Jiwon; Lee, Joo Hoon; Park, Young Seo; Seo, Go Hun; Keum, Changwon; Kang, Hee Gyung; Lee, Hajeong; Lee, Sang Koo; Lee, Sang Taek; Cho, Heeyeon; Lee, Beom Hee.
Afiliação
  • Jung J; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
  • Lee JH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
  • Park YS; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, 88, Olympic-ro 43-gil, Songpa-gu, Seoul, 05505, Republic of Korea.
  • Seo GH; 3Billion, Inc., Seoul, South Korea.
  • Keum C; 3Billion, Inc., Seoul, South Korea.
  • Kang HG; Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Republic of Korea.
  • Lee H; Division of Nephrology, Department of Internal Medicine, Seoul National University Hospital, Seoul, Republic of Korea.
  • Lee SK; Division of Nephrology, Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Republic of Korea.
  • Lee ST; Department of Pediatrics, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Republic of Korea.
  • Cho H; Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea.
  • 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, Republic of Korea. bhlee@amc.seoul.kr.
BMC Med Genomics ; 14(1): 177, 2021 07 03.
Article em En | MEDLINE | ID: mdl-34217267
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Sequenciamento do Exoma Tipo de estudo: Diagnostic_studies / Prognostic_studies Idioma: En Ano de publicação: 2021 Tipo de documento: Article