E Fisher

Summary

Affiliation: University of British Columbia
Country: Canada

Publications

  1. ncbi Exploring the genetic origins of Treacher Collins syndrome
    E Fisher
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada E mail
    Clin Genet 79:330-2. 2011
  2. ncbi A specific subtype of Infantile Parkinsonism-dystonia identified
    E Fisher
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada E mail
    Clin Genet 79:332-4. 2011
  3. ncbi A step forward on the path towards understanding osteoporosis
    E Fisher
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, V5Z 4H4 Canada e mail
    Clin Genet 80:136-7. 2011

Detail Information

Publications3

  1. ncbi Exploring the genetic origins of Treacher Collins syndrome
    E Fisher
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada E mail
    Clin Genet 79:330-2. 2011
    ..Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome Dauwerse et al. (2011) Nature Genetics 43:20-22...
  2. ncbi A specific subtype of Infantile Parkinsonism-dystonia identified
    E Fisher
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, BC V5Z 4H4, Canada E mail
    Clin Genet 79:332-4. 2011
    ..Clinical and molecular characterization of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study Kurian et al. (2011) The Lancet Neurology 10 (1):54-62...
  3. ncbi A step forward on the path towards understanding osteoporosis
    E Fisher
    Centre for Molecular Medicine and Therapeutics, Department of Medical Genetics, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, V5Z 4H4 Canada e mail
    Clin Genet 80:136-7. 2011
    ..Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss Simpson et al. (2011) Nature Genetics 43 (4): 303-305...