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Browsing by Author Amiel, J.

Full Text	Issue Date	Title	Author(s)
	2010	IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.	Kranendijk, M.; Struys, E.A.; Schaftingen, E. van, et al
	2006	Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.	Kleefstra, T.; Brunner, H.G.; Amiel, J., et al
	2012	Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Kramer, J.M.; Neveling, K., et al