• The University of Western Australia (M510), 35 Stirling Highway,

    6009 Perth

    Australia

  • 2515 Citations
  • 27 h-Index
19972019
If you made any changes in Pure these will be visible here soon.

Personal profile

Keywords

  • Molecular genetics
  • Neurological disorders
  • Neuromuscular disorders

Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 17 Similar Profiles
Actins Medicine & Life Sciences
Nemaline Myopathies Medicine & Life Sciences
Skeletal Muscle Medicine & Life Sciences
Mutation Medicine & Life Sciences
Muscles Medicine & Life Sciences
Tropomyosin Medicine & Life Sciences
Genes Medicine & Life Sciences
Muscular Diseases Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Projects 2005 2019

Research Output 1997 2018

Clinical Utility Gene Card for: Becker muscular dystrophy

Coote, D., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 21 Feb 2018, In : European Journal of Human Genetics. p. 1-7 7 p.

Research output: Contribution to journalArticle

Clinical Utility Gene Card for autosomal dominant myotonia congenita (Thomsen Disease)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 1 Jul 2018, In : European Journal of Human Genetics. 26, 7, p. 1072-1077 6 p.

Research output: Contribution to journalArticle

Open Access

Clinical utility gene card for McArdle disease

Taylor, R. L., Davis, M., Turner, E., Brull, A., Pinos, T., Cabrera, M. & Nowak, K. J., 1 May 2018, In : European Journal of Human Genetics. p. 758-764 7 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type V
Genetic Databases
Genes
Names
Glycogen Storage Disease

CUGC for Duchenne muscular dystrophy (DMD)

Coote, D. J., Davis, M. R., Cabrera, M., Needham, M., Laing, N. G. & Nowak, K. J., 12 Jan 2018, In : European Journal of Human Genetics. p. 1-9 9 p.

Research output: Contribution to journalArticle

1 Citations

Incidental inequity

Nowak, K. J., Bauskis, A., Dawkins, H. J. & Baynam, G., 1 May 2018, In : European Journal of Human Genetics. 26, 5, p. 616-617 2 p.

Research output: Contribution to journalLetter

Open Access