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Browsing by Author Dunnen, J.T. den

Full Text	Issue Date	Title	Author(s)
	2012	Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement	Sun, Y; Bak, B.; Schoenmakers, N.; van Trotsenburg, A.S.; Oostdijk, W., 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
	2011	Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2	Greef, J.C. de; Wang, J.; Balog, J.; Dunnen, J.T. den; Frants, R.R., et al
	2011	Targeting several CAG expansion diseases by a single antisense oligonucleotide.	Evers, M.M.; Pepers, B.A.; Deutekom, J.C.T. van; Mulders, S.A.M.; Dunnen, J.T. den, et al
	2010	Becker muscular dystrophy patients with deletions around exon 51; a promising outlook for exon skipping therapy in Duchenne patients.	Helderman-van den Enden, A.T.; Straathof, C.S.; Aartsma-Rus, A.; Dunnen, J.T. den; Verbist, B.M., et al
	2010	Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene.	Sun, Y.; Almomani, R.; Aten, E.; Celli, J.; Heijden, J. van der, et al
	2009	Planning the human variome project: the Spain report.	Kaput, J.; Cotton, R.G.; Hardman, L.; Watson, M.; Aqeel, A.I. Al, et al
	2007	Variation of CNV distribution in five different ethnic populations.	White, S.J.; Vissers, L.E.L.M.; Geurts van Kessel, A.H.M.; Menezes, R.X. de; Kalay, E., et al
	1996	Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4	Kok, Y.J.M. de; Vossenaar, E.R.; Cremers, C.W.R.J.; Dahl, N.; Laporte, J., et al
	1995	Yeast artificial chromosome cloning of the Xq13.3-q21.31 region and fine mapping of a deletion associated with choroideremia and nonspecific mental retardation	Maarel, S.M. van der; Scholten, I.H.J.M.; Maat-Kievit, J.A.; Huber, I.; Kok, Y.J.M. de, et al