J K Ploos van Amstel

Genotype-phenotype relationship in hereditary haemorrhagic telangiectasia

D. Lindhout, R. Snijder, J. Mager, 2005, Journal of Medical Genetics.

Uneven X inactivation in a female monozygotic twin pair with Fabry disease and discordant expression of a novel mutation in the alpha-galactosidase A gene.

R. Wevers, R. Salvayre, T. Levade, 1996, Journal of medical genetics.