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Browsing by Author Karperien, M.

Full Text	Issue Date	Title	Author(s)
	2011	The severe short stature in two siblings with a heterozygous IGF1 mutation is not caused by a dominant negative effect of the putative truncated protein	Duyvenvoorde, H.A. van; Doorn, J. van; Koenig, J.; Gauguin, L.; Oostdijk, W., et al
	2011	Genome-wide screening in human growth plates during puberty in one patient suggests a role for RUNX2 in epiphyseal maturation.	Emons, J.; Dutilh, B.E.; Decker, E.; Pirzer, H.; Sticht, C., et al
	2010	Short stature associated with a novel heterozygous mutation in the insulin-like growth factor 1 gene.	Duyvenvoorde, H.A. van; Setten, P.A. van; Walenkamp, M.J.; Doorn, J. van; Koenig, J., et al
	2008	Homozygous and heterozygous expression of a novel mutation of the acid-labile subunit.	Duyvenvoorde, H.A. van; Kempers, M.J.E.; Twickler, T.B.; Doorn, J. van; Gerver, W.J., et al
	2006	Normalization of serum calcium by cinacalcet in a patient with hypercalcaemia due to a de novo inactivating mutation of the calcium-sensing receptor.	Timmers, H.J.L.M.; Karperien, M.; Hamdy, N.A.; Boer, H. de; Hermus, A.R.M.M.
	2005	Whole-body bioluminescent imaging of human uveal melanoma in a new mouse model of local tumor growth and metastasis.	Notting, I.C.; Buijs, J.; Que, I.; Mintardjo, R.E.; Horst, G. ter, et al
	2004	Genotype-phenotype correlation in patients suspected of having sotos syndrome.	Boer, L.M.; Kant, S.; Karperien, M.; Beers, L. van; Tjon, J., et al