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Browsing by Author Rohrschneider, K.

Full Text	Issue Date	Title	Author(s)
	2011	IQCB1 mutations in patients with leber congenital amaurosis	Estrada-Cuzcano, A.; Koenekoop, R.K.; Coppieters, F.; Kohl, S.; Lopez, I., et al
	2010	Homozygosity mapping in patients with cone-rod dystrophy: novel mutations and clinical characterizations.	Littink, K.W.; Koenekoop, R.K.; Born, L.I. van den; Collin, R.W.J.; Moruz, L.M., et al
	2010	A novel nonsense mutation in CEP290 induces exon skipping and leads to a relatively mild retinal phenotype.	Littink, K.W.; Pott, J.W.; Collin, R.W.J.; Kroes, H.Y.; Verheij, J.B., et al
	2009	A novel homozygous nonsense mutation in CABP4 causes congenital cone-rod synaptic disorder.	Littink, K.W.; Genderen, M. van; Collin, R.W.J.; Roosing, S.; Brouwer, A.P.M. de, et al
	2007	Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.	Hollander, A.I. den; Lopez, I.; Yzer, S.; Zonneveld, M.N.; Janssen, I.M., et al
	2006	Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis.	Yzer, S.; Leroy, B.P.; Baere, E. de; Ravel, T.J. de; Zonneveld-Vrieling, M.N., et al
	2006	Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.	Hollander, A.I. den; Koenekoop, R.K.; Yzer, S.; Lopez, I.; Arends, M.L., et al
	2005	Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis	Hurk, J.A.J.M. van den; Rashbass, P.; Roepman, R.; Davis, J.; Voesenek, K.E.J., et al
	2004	Microarray-based mutation analysis of the ABCA4 (ABCR) gene in autosomal recessive cone-rod dystrophy and retinitis pigmentosa.	Klevering, B.J.; IJzer, S.; Rohrschneider, K.; Zonneveld-Vrieling, M.N.; Allikmets, R., et al