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8 Most Recent Publications
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ANO5 mutations in the Dutch limb girdle muscular dystrophy population
(Article)
Kooi, A.J. van der Dam, L. ten Frankhuizen, W.S. Straathof, C.S.M. Doorn, P.A. van Visser, M. de Ginjaar, I.B. |
2013-04-22
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Effect of enzyme therapy and prognostic factors in 69 adults with Pompe disease: An open-label single-center study
(Article)
Vries, J.M. de Beek, N.A.M.E. van der Faber, C.G. Verschuuren, J.J. Kruijshaar, M.E. Reuser, A.J.J. Doorn, P.A. van Ploeg, A.T. van der Hop, W.C.J. Karstens, F.P. Wokke, J.H.J. Visser, M. de Engelen, B.G. van Kuks, J.B.M. Kooi, A.J. van der Notermans, N.C. |
2012-09-28
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Recurrent and founder mutations in the Netherlands: The cardiac phenotype of DES founder mutations p.S13F and p.N342D
(Article)
Spaendonck-Zwarts, K.Y. van Kooi, A.J. van der Visser, M. de Jongbloed, J.D.H. Tintelen, J.P. van Berg, M.P. van den Ippel, E.F. Boven, L.G. Yee, W.C. Wijngaard, A. van den Brusse, E. Hoogendijk, J.E. Doevendans, P.A. |
2012-05-01
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The phenotype of the Gly94fsX222 PMP22 insertion
(Article)
Vries, S.D.J. de Verhamme, C. Baas, F. Ruissen, F. van Paassen, B.W. van Arts, W.F.M. Kerkhoff, H. Engelen, B.G.M. van Lammens, M. Visser, M. de Kooi, A.J. van der |
2011-06-01
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Randomised controlled trial comparing two different intravenous immunoglobulins in chronic inflammatory demyelinating polyradiculoneuropathy
(Article)
Kuitwaard, K. Berg, L.H. van den Hop, W.C.J. Doorn, P.A. van Vermeulen, M. Brusse, E. Cats, E.A. Kooi, A.J. van der Notermans, N.C. Pol, W.L. van der Schaik, I.N. van Nes, S.I. van |
2010-12-01
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Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis
(Article)
Es, M.A. van Veldink, J.H. Kooi, A.J. van der Visser, M. de Dahlberg, C. Estrada Gil, J.K. Rivadeneira Ramirez, F. Hofman, A. Zwarts, M.J. Doormaal, P.T.C. van Rujescu, D. Strengman, E. Saris, C.G. Giegling, I. Muglia, P. Tomik, B. Slowik, A. Uitterlinden, A.G. Hendrich, C. Waibel, S. Meyer, T. Ludolph, A.C. Glass, J.D. Blauw, H.M. Purcell, S. Cichon, S. Nöthen, M.M. Wichmann, H.E. Schreiber, S. Vermeulen, S.H.H.M. Kiemeney, L.A.L.M. Wokke, J.H.J. Cronin, S. Mclaughlin, R.L. Vught, P.W. van Hardiman, O. Fumoto, K. Pasterkamp, R.J. Meininger, V. Melki, J. Leigh, P.N. Shaw, C.E. Landers, J.E. Al-Chalabi, A. Brown Jr, R.H. Birve, A. Robberecht, W. Andersen, P.M. Ophoff, R.A. Berg, L.H. van den Lemmens, R. Schelhaas, H.J. Groen, E.J. Huisman, M.H.B. |
2009-10-01
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The Lambert-Eaton myasthenic syndrome 1988-2008: A clinical picture in 97 patients
(Article)
Titulaer, M.J. Wirtz, P.W. Kuks, J.B.M. Schelhaas, H.J. Kooi, A.J. van der Faber, C.G. Pol, W.L. van der Visser, M. de Smitt, P.A. Verschuuren, J.J. |
2008-09-15
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Extension of the clinical spectrum of Danon disease
(Article)
Kooi, A.J. van der Langen, I.M. van Visser, M. de Aronica, E. Doorn, P.A. van Wokke, J.H.J. Brusse, E. Langerhorst, C.T. Bergin, P. Dekker, L.R.C. Lekanne Dit Deprez, R.H. |
2008-04-01
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