C. van Ravenswaaij-Arts

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces.

L. Meiners, C. V. van Ravenswaaij-Arts, A. Lin, 2017, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

A phenotype resembling the Clouston syndrome with deafness is associated with a novel missense GJB2 mutation.

P. Steijlen, M. van geel, M. V. van Steensel, 2004, The Journal of investigative dermatology.

CHARGE Syndrome

C. van Ravenswaaij-Arts, A. Lambeck, E. H. Schölvinck, 2020, Genetic Syndromes.

Imaging of Clival Hypoplasia in CHARGE Syndrome and Hypothesis for Development: A Case-Control Study

L. Meiners, J. Bergman, C. van Ravenswaaij-Arts, 2018, American Journal of Neuroradiology.

A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

J. van Reeuwijk, L. Hoefsloot, H. van Bokhoven, 2010, Brain : a journal of neurology.