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Browsing by Author Rosenberg, E.H.

Full Text	Issue Date	Title	Author(s)
	2012	Detection of variants in SLC6A8 and functional analysis of unclassified missense variants	Betsalel, O.T.; Pop, A.; Rosenberg, E.H.; Fernandez-Ojeda, M.; Jakobs, C., et al
	2011	Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database	Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E., et al
	2008	Detection of low-level somatic and germline mosaicism by denaturing high-performance liquid chromatography in a EURO-MRX family with SLC6A8 deficiency.	Betsalel, O.T.; Kamp, JM van de; Martinez-Munoz, C.; Rosenberg, E.H.; Brouwer, A.P.M. de, et al
	2007	Functional characterization of missense variants in the creatine transporter gene (SLC6A8): improved diagnostic application.	Rosenberg, E.H.; Martinez Munoz, C.; Betsalel, O.T.; Dooren, S. van; Fernandez, M., et al
	2005	Progressive intestinal, neurological and psychiatric problems in two adult males with cerebral creatine deficiency caused by an SLC6A8 mutation.	Kleefstra, T.; Rosenberg, E.H.; Salomons, G.S.; Stroink, H.; Bokhoven, J.H.L.M. van, et al
	2004	High prevalence of SLC6A8 deficiency in X-linked mental retardation.	Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Grauw, R.S. de; Yntema, H.G., et al