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Exome Sequencing and the Management of Neurometabolic Disorders
Author: Tarailo-Graovac, Maja, Author: Shyr, Casper, Author: Ross, Colin J., Author: Horvath, Gabriella A., Author: Ruben, Peter C., Author: van Karnebeek, Clara D.
Date created: 2016-05-25

Date created

Resource type

  • Article (1)

Author

  • Horvath, Gabriella A. (1)
  • Ross, Colin J. (1)
  • Ruben, Peter C. (1)
  • Shyr, Casper (1)
  • Tarailo-Graovac, Maja (1)
  • van Karnebeek, Clara D. (1)

Collection

  • Biomedical Physiology and Kinesiology (1)

Scholarly level

  • Faculty/Staff (1)

Thesis Advisor

Peer reviewed?

  • Yes (1)

Keywords

  • Carbonic anhydrase VA deficiency (1)
  • (-) Deep phenotyping (1)
  • Genome-wide sequencing (1)
  • Glutamic oxalo-acetic transaminase 2 deficiency (1)
  • Inborn error of metabolism (1)
  • Intellectual disabilities (1)
  • Whole-exome sequencing (1)

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