DSpace at RU >

Browsing by Author Pfundt, R.

Full Text	Issue Date	Title	Author(s)
	2011	Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability	Willemsen, M.H.; Valles, A.; Kirkels, L.A., et al
	2011	Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19	Bredrup, C.; Saunier, S.; Oud, M.M., et al
	2007	Complex chromosome 17p rearrangements associated with low-copy repeats in two patients with congenital anomalies.	Vissers, L.E.L.M.; Stankiewicz, P.; Yatsenko, S.A., et al
	2012	Congenital myopathy caused by a novel missense mutation in the CFL2 gene.	Ockeloen, C.W.; Gilhuis, H.J.; Pfundt, R., et al
	1996	Constitutive and inducible expression of SKALP/Elafin provides anti-elastase defense in human epithelia	Pfundt, R.; Ruissen, F. van; Vlijmen-Willems, I.M.J.J. van, et al
	1996	The cooperation between two silencers creates an enhancer element that controls both the lens-preferred and the differentiation stage-specific expression of the rat beta B2-crystallin gene	Dirks, R.P.H.; Kraft, H.J.; Genesen, S.T. van, et al
	2012	Copy number variants in a sample of patients with psychotic disorders: is standard screening relevant for actual clinical practice?	Van de Kerkhof, N.W.; Feenstra, I.; van der Heijden, F.M., et al
	2010	Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.	Reutlinger, C.; Helbig, I.; Gawelczyk, B., et al
	2005	Diagnostic genome profiling in mental retardation.	Vries, L.B.A. de; Pfundt, R.; Leisink, M.A.R., et al
	2007	Diet-induced hyperhomocysteinemia does not lead to large gene-expression differences in rat aorta.	Heil, S.G.; Kluijtmans, L.A.J.; Vriese, A.S. de, et al
	2011	Disruption of Teashirt Zinc Finger Homeobox 1 Is Associated with Congenital Aural Atresia in Humans.	Feenstra, I.; Vissers, L.E.L.M.; Pennings, R.J.E., et al
	2010	Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes.	Bruno, D.L.; Anderlid, B.M.; Lindstrand, A., et al
	2012	Gain of glycosylation in integrin alpha3 causes lung disease and nephrotic syndrome	Nicolaou, N.; Margadant, C.; Kevelam, S.H., et al
	2006	Genomic and expression profiling of human spermatocytic seminomas: primary spermatocyte as tumorigenic precursor and DMRT1 as candidate chromosome 9 gene.	Looijenga, L.H.J.; Hersmus, R.; Gillis, A.J.M., et al
	2005	High expression levels of keratinocyte antimicrobial proteins in psoriasis compared with atopic dermatitis.	Jongh, G.J. de; Zeeuwen, P.L.J.M.; Kucharekova, M., et al
	2006	Holoprosencephaly and preaxial polydactyly associated with a 1.24 Mb duplication encompassing FBXW11 at 5q35.1.	Koolen, D.A.; Herbergs, J.; Veltman, J.A., et al
	2011	Homozygosity mapping in outbred families with mental retardation	Schuurs-Hoeijmakers, J.H.M.; Hehir, J.Y.; Pfundt, R., et al
	2005	Identification of androgen-responsive genes that are alternatively regulated in androgen-dependent and androgen-independent rat prostate tumors.	Pfundt, R.; Smit, F.P.; Jansen, Corine, et al
	2010	Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome.	Willemsen, M.H.; Fernandez, B.A.; Bacino, C.A., et al
	2010	Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis.	Faas, B.H.W.; Burgt, C.J.A.M. van der; Kooper, A.J.A., et al