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Browsing by Author Schwartz, C.E.

Full Text	Issue Date	Title	Author(s)
	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
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M.; Whibley, A.C.; Oudakker, A.R., et al
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly.	Giannandrea, M.; Bianchi, V.; Mignogna, M.L.; Sirri, A.; Carrabino, S., et al
	2009	A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation.	Tarpey, P.S.; Smith, R.; Pleasance, E.; Whibley, A.; Edkins, S., et al
	2008	Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.	Koolen, D.A.; Sharp, A.J.; Hurst, J.A.; Firth, H.V.; Knight, S.J., et al
	2008	Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.	Mefford, H.C.; Sharp, A.J.; Baker, C.; Itsara, A.; Jiang, Z., et al
	2008	Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.	Froyen, G.; Corbett, M.; Walle, J. van de; Jarvela, I.; Lawrence, O., 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
	2006	Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.	Hagens, O.; Dubos, A.; Abidi, F.; Barbi, G.; Zutven, L. Van, et al
	2006	Frequency of genomic rearrangements involving the SHFM3 locus at chromosome 10q24 in syndromic and non-syndromic split-hand/foot malformation.	Everman, D.B.; Morgan, C.T.; Lyle, R.; Laughridge, M.E.; Bamshad, M., et al