DSpace at RU >

Browsing by Author Frints, S.G.

Full Text	Issue Date	Title	Author(s)
	2008	MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.	Frints, S.G.; Lenzner, S.; Bauters, M., et al
	2007	Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.	Brouwer, A.P.M. de; Yntema, H.G.; Kleefstra, T., et al
	2006	Mutations in the gene encoding the 3'-5' DNA exonuclease TREX1 cause Aicardi-Goutieres syndrome at the AGS1 locus.	Crow, Y.J.; Hayward, B.E.; Parmar, R., et al
	2008	REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.	Beetz, C.; Schule, R.; Deconinck, T., et al