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Browsing by Author Frints, S.G.

Full Text	Issue Date	Title	Author(s)
	2009	Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.	Aa, N. van der; Rooms, L.; Weyer, G. van de; Ende, J.J. van den; Reyniers, E., et al
	2008	REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.	Beetz, C.; Schule, R.; Deconinck, T.; Tran-Viet, K.N.; Zhu, H., et al
	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.; Jensen, L.R.; Esch, H. van, 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.; Lugtenberg, D.; Oudakker, A.R., et al
	2007	Clinical and molecular phenotype of Aicardi-Goutieres syndrome.	Rice, G.; Patrick, T.; Parmar, R.; Taylor, C.F.; Aeby, A., et al
	2006	Chromosomal copy number changes in patients with non-syndromic X linked mental retardation detected by array CGH.	Lugtenberg, D.; Brouwer, A.P.M. de; Kleefstra, T.; Oudakker, A.R.; Frints, S.G., 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.; Robins, P.; Leitch, A., et al