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Browsing by Author Dooijes, D.

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Full TextIssue DateTitleAuthor(s)
2011Breakpoint mapping of 13 large parkin deletions/duplications reveals an exon 4 deletion and an exon 7 duplication as founder mutationsElfferich, P.; Verleun-Mooijman, M.C.T.; Maat-Kievit, J.A., et al
2009CSF 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., et al
2012Evidence for an oligogenic basis of amyotrophic lateral sclerosis.Blitterswijk, M. van; Es, M.A. van; Hennekam, E.A., et al
2010FUS mutations in familial amyotrophic lateral sclerosis in the Netherlands.Groen, E.J.; Es, M.A. van; Vught, P.W. van, et al
2012Genetic Overlap between Apparently Sporadic Motor Neuron Diseasesvan Blitterswijk, M.; Vlam, L.; Van Es, M.A., et al
2005Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population.Verbeek, D.S.; Warrenburg, B.P.C. van de; Hennekam, F.A., et al
2012Hexanucleotide repeat expansions in C9ORF72 in the spectrum of motor neuron diseases.Rheenen, W. van; Blitterswijk, M. van; Huisman, M.H., et al
2007Limb anomalies in patients with CHARGE syndrome: an expansion of the phenotype.Laar, I. van de; Dooijes, D.; Hoefsloot, L.H., et al
2011Manifest 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 strategyChristiaans, I.; Birnie, E.; Bonsel, G.J., et al
2008A 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., et al
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