E. Mariken Ruiter
Radboud University Nijmegen Medical Centre
Department of Human Genetics
Nijmegen
Netherlands
Name/email consistency: high
- The mitochondrial 13513G > A mutation is most frequent in Leigh syndrome combined with reduced complex I activity, optic atrophy and/or Wolff-Parkinson-White. Ruiter, E.M., Siers, M.H., van den Elzen, C., van Engelen, B.G., Smeitink, J.A., Rodenburg, R.J., Hol, F.A. Eur. J. Hum. Genet. (2007)
- No justification of routine screening for 22q11 deletions in patients with overt cleft palate. Ruiter, E.M., Bongers, E.M., Smeets, D.F., Kuijpers-Jagtman, A.M., Hamel, B.C. Clin. Genet. (2003)