DSpace at RU >

Search Results

Results 11-17 of 17.

Item hits:

Full Text	Issue Date	Title	Author(s)
	2009	Forging links between human mental retardation-associated CNVs and mouse gene knockout models.	Webber, C.; Hehir-Kwa, J.Y.; Nguyen, D.Q.; Vries, L.B.A. de; Veltman, J.A.; Ponting, C.P.
	2009	Constitutional DNA copy number changes in ICSI children.	Woldringh, G.H.; Janssen, I.M.; Hehir-Kwa, J.Y.; Elzen, C. van den; Kremer, J.A.M.; Boer, P. de; Schoenmakers, E.F.P.M.
	2009	Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.	McMullan, D.J.; Bonin, M.; Hehir-Kwa, J.Y.; Vries, L.B.A. de; Dufke, A.; Rattenberry, E.; Steehouwer, M.; Moruz, L.M.; Pfundt, R.P.; Leeuw, N. de; Riess, A.; Altug-Teber, O.; Enders, H.; Singer, S.; Grasshoff, U.; Walter, M.; Walker, J.M.; Lamb, C.V.; Davison, E.V.; Brueton, L.; Riess, O.; Veltman, J.A.
	2009	Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.	Koolen, D.A.; Pfundt, R.P.; Leeuw, N. de; Hehir-Kwa, J.Y.; Nillesen, W.M.; Neefs, I.; Scheltinga, I.; Sistermans, E.A.; Smeets, D.F.C.M.; Brunner, H.G.; Geurts van Kessel, A.H.M.; Veltman, J.A.; Vries, L.B.A. de
	2007	Genome-wide copy number profiling on high-density bacterial artificial chromosomes, single-nucleotide polymorphisms, and oligonucleotide microarrays: a platform comparison based on statistical power analysis.	Hehir-Kwa, J.Y.; Egmont-Peterson, M.; Janssen, I.M.; Smeets, D.F.C.M.; Geurts van Kessel, A.H.M.; Veltman, J.A.
	2007	High-resolution genomic profiling of childhood ALL reveals novel recurrent genetic lesions affecting pathways involved in lymphocyte differentiation and cell cycle progression.	Kuiper, R.P.; Schoenmakers, E.F.P.M.; Reijmersdal, S.V. van; Hehir-Kwa, J.Y.; Geurts van Kessel, A.H.M.; Leeuwen, F.N. van; Hoogerbrugge, P.M.
	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.; Strom, T.M.; Hehir-Kwa, J.Y.; Veltman, J.A.; Arends, M.L.; Meitinger, T.; Musarella, M.A.; Born, L.I. van den; Fishman, G.A.; Maumenee, I.H.; Rohrschneider, K.; Cremers, F.P.M.; Koenekoop, R.K.

previous 1 2