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Browsing by Author Willemsen, R.

Full Text	Issue Date	Title	Author(s)
	2012	The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions.	Simon-Sanchez, J.; Dopper, E.G.; Cohn-Hokke, P.E.; Hukema, R.K.; Nicolaou, N., et al
	2012	NPHP4 variants are associated with pleiotropic heart malformations.	French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W., et al
	2012	Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease.	Quadri, M.; Federico, A.; Zhao, T.; Breedveld, G.J.; Battisti, C., et al
	2011	Immune responses to transgene and retroviral vector in patients treated with ex vivo-engineered T cells	Lamers, C.H.; Willemsen, R.; Elzakker, P. van; Steenbergen-Langeveld, S. van; Broertjes, M., et al
	2011	Widespread non-central nervous system organ pathology in fragile X premutation carriers with fragile X-associated tremor/ataxia syndrome and CGG knock-in mice	Hunsaker, M.R.; Greco, C.M.; Spath, M.A.; Smits, A.P.T.; Navarro, C.S., et al
	2011	Mutations in SMAD3 cause a syndromic form of aortic aneurysms and dissections with early-onset osteoarthritis	Laar, I.M. van de; Oldenburg, R.A.; Pals, G.; Roos-Hesselink, J.W.; Graaf, B.M. de, et al
	2007	TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations.	Seelaar, H.; Schelhaas, H.J.; Azmani, A.; Kusters, B.; Rosso, S., et al
	2003	Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis	Willemsen, R.; Smits, A.; Severijnen, L.A.; Jansen, M.; Jacobs, A., et al
	2003	Predictive testing for cognitive functioning in female carriers of the fragile X syndrome using hair root analysis.	Willemsen, R.; Smits, A.P.T.; Severijnen, L.A.; Jansen, M.; Jacobs, A.J.M, et al
	1997	Rapid antibody test for diagnosing fragile X syndrome : a validation of the technique	Willemsen, R.; Smits, A.; Haan, A. de; Mohkamsing, S.; Beerendonk, H. van, et al
	1996	Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype	Keulemans, J.L.M.; Reuser, A.J.J.; Kroos, M.A.; Willemsen, R.; Hermans, M.M.P., et al
	1995	Normal phenotype in two brothers with a full FMR1 mutation	Smeets, H.J.M.; Smits, A.P.T.; Verheij, C.E.; Theelen, J.P.G.; Willemsen, R., et al