Johanna B G M Verheij

Summary

Affiliation: University Medical Center Groningen
Country: The Netherlands

Publications

  1. ncbi request reprint Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
    Johanna B G M Verheij
    Department of Medical Genetics, University Medical Centre Groningen, Groningen University, Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Paediatr Neurol 10:11-7. 2006
  2. doi request reprint An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions
    J B G M Verheij
    Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Med Genet 52:353-7. 2009

Collaborators

Detail Information

Publications2

  1. ncbi request reprint Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
    Johanna B G M Verheij
    Department of Medical Genetics, University Medical Centre Groningen, Groningen University, Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Paediatr Neurol 10:11-7. 2006
    ..Children presenting with features of Waardenburg syndrome and neurological dysfunction should be tested for mutations in the SOX10 gene to enable diagnosis and counselling...
  2. doi request reprint An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions
    J B G M Verheij
    Department of Genetics, University Medical Center Groningen, University of Groningen, Hanzeplein 1, Box 30 001, 9700 RB Groningen, The Netherlands
    Eur J Med Genet 52:353-7. 2009
    ..A gene that might play a role in the convulsions of our patients is KCNQ3...