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Browsing by Author Pfundt, R.

Full Text	Issue Date	Title	Author(s)
	2012	Mutations in ISPD cause Walker-Warburg syndrome and defective glycosylation of α-dystroglycan	Roscioli, T.; Reeuwijk, J. van; Elzen, C. van den, et al
	2006	A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism.	Koolen, D.A.; Vissers, L.E.L.M.; Pfundt, R., et al
	2006	No evidence for large-scale germline genomic aberrations in hereditary bladder cancer patients with high-resolution array-based comparative genomic hybridization.	Kiemeney, L.A.L.M.; Kuiper, R.P.; Pfundt, R., et al
	2006	A novel 2.3 Mb microduplication of 12q24.21q24.23 detected by genome-wide tiling-path resolution array comparative genomic hybridization in a girl with syndromic mental retardation.	Ruiter, M.; Koolen, D.A.; Pfundt, R., et al
	2005	Novel chromosomal imbalances in mantle cell lymphoma detected by genome-wide array-based comparative genomic hybridization.	Schraders, M.; Pfundt, R.; Straatman, H.M.P.M., et al
	2007	A novel microdeletion in 1(p34.2p34.3), involving the SLC2A1 (GLUT1) gene, and severe delayed development.	Vermeer, S.; Koolen, D.A.; Visser, G., et al
	2011	De novo copy number variants associated with intellectual disability have a paternal origin and age bias	Hehir, J.Y.; Rodriguez-Santiago, B.; Vissers, L.E.L.M., et al
	2011	The phenotype of recurrent 10q22q23 deletions and duplications	Bon, B.W. van; Balciuniene, J.; Fruhman, G., et al
	2007	Pure subtelomeric microduplications as a cause of mental retardation.	Ruiter, E.M.; Koolen, D.A.; Kleefstra, T., et al
	2010	Recurrent deletion of ZNF630 at Xp11.23 is not associated with mental retardation.	Lugtenberg, D.; Zangrande-Vieira, L.; Kirchhoff, M., et al
	2008	Reduced purifying selection prevails over positive selection in human copy number variant evolution.	Nguyen, D.Q.; Webber, C.; Hehir-Kwa, J., et al
	2010	Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.	Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de, et al
	2011	SNP array analysis in constitutional and cancer genome diagnostics-copy number variants, genotyping and quality control.	Leeuw, N. de; Hehir-Kwa, J.Y.; Simons, A., et al
	2010	Subtelomeric chromosomal anomalies in infantile epileptic encephalopathies.	Ruiter, M.; Pfundt, R.; Koolen, D.A., et al
	2007	Tall stature and minor facial dysmorphisms in a patient with a 17.5 Mb interstitial deletion of chromosome 13 (q14.3q21.33): clinical report and review.	Bon, B.W.M. van; Koolen, D.A.; Feenstra, I., et al
	2006	Targeted disruption of the synovial sarcoma-associated SS18 gene causes early embryonic lethality and affects PPARBP expression.	Bruijn, D.R.H. de; Peters, W.J.M; Chuva de Sousa Lopes, S.M., et al
	2010	Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.	Volpi, L.; Roversi, G.; Colombo, E.A., et al