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Diagnosis of Arboleda-Tham syndrome by whole genome sequencing in an Asian boy with severe developmental delay.
Lin, Yung-Feng; Lin, Tzu-Ching; Kirby, Ralph; Weng, Hui-Ying; Liu, Yen-Ming; Niu, Dau-Ming; Tsai, Shih-Feng; Yang, Chia-Feng.
  • Lin YF; Institute of Molecular and Genomic Medicine, National Health Research Institutes, Zhunan, Miaoli County, Taiwan.
  • Lin TC; School of Medicine, National Yang-Ming University, Taipei, Taiwan.
  • Kirby R; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
  • Weng HY; Department of Life Science, National Yang Ming University, Taipei, Taiwan.
  • Liu YM; Biomedical Industry Ph.D. Program, National Yang-Ming University, Taipei, Taiwan.
  • Niu DM; Institute of Molecular and Genomic Medicine, National Health Research Institutes, Zhunan, Miaoli County, Taiwan.
  • Tsai SF; School of Medicine, National Yang-Ming University, Taipei, Taiwan.
  • Yang CF; Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan.
Mol Genet Metab Rep ; 25: 100686, 2020 Dec.
Article en En | MEDLINE | ID: mdl-33318932

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Año: 2020 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Prognostic_studies Idioma: En Año: 2020 Tipo del documento: Article