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Browsing by Author Dooijes, D.

Full Text	Issue Date	Title	Author(s)
	2011	Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutations	Elfferich, P.; Verleun-Mooijman, M.C.T.; Maat-Kievit, J.A.; Warrenburg, B.P.C. van de; Abdo, W.F., et al
	2011	Manifest disease, risk factors for sudden cardiac death, and cardiac events in a large nationwide cohort of predictively tested hypertrophic cardiomyopathy mutation carriers: determining the best cardiological screening strategy	Christiaans, I.; Birnie, E.; Bonsel, G.J.; Mannens, M.M.A.M.; Michels, M., et al
	2010	FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.	Groen, E.J.; Es, M.A. van; Vught, P.W. van; Spliet, W.G.; Engelen-Lee, J. van, et al
	2009	CSF studies facilitate DNA diagnosis in familial Alzheimer's disease due to a presenilin-1 mutation.	Bot, S.T. de; Kremer, H.P.H.; Dooijes, D.; Verbeek, M.M.
	2008	A new syndrome with noncompaction cardiomyopathy, bradycardia, pulmonary stenosis, atrial septal defect and heterotaxy with suggestive linkage to chromosome 6p.	Wessels, M.W.; Graaf, B.M. de; Cohen-Overbeek, T.E.; Spitaels, S.E.; Laat, L.E. de Groot-de, et al
	2007	Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.	Laar, I. van de; Dooijes, D.; Hoefsloot, L.H.; Simon, M.; Hoogeboom, J., et al
	2005	Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.	Verbeek, D.S.; Warrenburg, B.P.C. van de; Hennekam, F.A.; Dooijes, D.; Ippel, P.F., et al