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Browsing by Author Pfundt, R.

Full Text	Issue Date	Title	Author(s)
	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