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| Full Text | Issue Date | Title | Author(s) | | 2011 | Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. | Lefeber, D.J.; Brouwer, A.P.M. de; Morava, E.; Riemersma, M.; Schuurs-Hoeijmakers, J.H.M.; Absmanner, B.; Verrijp, K.; Akker, W.M.R. van den; Huijben, K.; Steenbergen, G.C.; Reeuwijk, J. van; Jozwiak, A.; Zucker, N.; Lorber, A.; Lammens, M.M.Y.; Knopf, C.; Bokhoven, H. van; Grunewald, S.; Lehle, L.; Kapusta, L.; Mandel, H.; Wevers, R.A. |
| 2011 | Nijmegen paediatric CDG rating scale: a novel tool to assess disease progression | Achouitar, S.; Mohamed, M.; Gardeitchik, T.; Wortmann, S.B.; Sykut-Cegielska, J.; Ensenauer, R.; Baulny, H.O. de; Ounap, K.; Martinelli, D.; de Vries, M.; McFarland, R.; Kouwenberg, D.; Theodore, M.; Wijburg, F.; Grunewald, S.; Jaeken, J.; Wevers, R.A.; Nijtmans, L.G.J.; Elson, J.; Morava, E. |
| 2011 | Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern | Mohamed, M.; Guillard, M.; Wortmann, S.B.; Cirak, S.; Marklova, E.; Michelakakis, H.; Korsch, E.; Adamowicz, M.; Koletzko, B.; Spronsen, F.J. van; Niezen-Koning, K.E.; Matthijs, G.; Gardeitchik, T.; Kouwenberg, D.; Lim, B.C.; Zeevaert, R.; Wevers, R.A.; Lefeber, D.J.; Morava, E. |
| 2011 | Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I | Guillard, M.; Wada, Y.; Hansikova, H.; Yuasa, I.; Vesela, K.; Ondruskova, N.; Kadoya, M.; Janssen, A.; Heuvel, L.P.W.J. van den; Morava, E.; Zeman, J.; Wevers, R.A.; Lefeber, D.J. |
| 2011 | Plasma N-glycan profiling by mass spectrometry for congenital disorders of glycosylation type II | Guillard, M.; Morava, E.; Delft, F.L. van; Hague, R.; Korner, C.; Adamowicz, M.; Wevers, R.A.; Lefeber, D.J. |
| 2011 | Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family | Morava, E.; Kuhnisch, J.; Drijvers, J.M.; Robben, J.H.; Cremers, C.W.R.J.; Setten, P. van; Branten, A.J.W.; Stumpp, S.; Jong, A. de; Voesenek, K.E.J.; Vermeer, S.; Heister, A.; Claahsen-van der Grinten, H.L.; O'Neill, C.W.; Willemsen, M.H.; Lefeber, D.J.; Deen, P.M.T.; Kornak, U.; Kremer, J.M.J.; Wevers, R.A. |
| 2011 | Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway | Kleefstra, T.; Wortmann, S.B.; Rodenburg, R.J.T.; Bongers, M.H.F.; Hadzsiev, K.; Noordam, C.; Heuvel, L.P.W.J. van den; Nillesen, W.M.; Hollody, K.; Gillessen-Kaesbach, G.; Lammens, M.M.Y.; Smeitink, J.A.M.; Burgt, C.J.A.M. van der; Morava, E. |
| 2010 | 'PKU: niet altijd 'PKU'' | Croonen, E.A.; Jonckheere, A.I.; Morava, E. |
| 2010 | De Barsy sydrome and ATP6V0A2-CDG Reply. | Morava, E.; Guillard, M.; Lefeber, Dirk; Wevers, R.A. |
| 2010 | Depressive behaviour in children diagnosed with a mitochondrial disorder | Morava, E.; Gardeitchik, T.; Kozicz, L.T.; Boer, L. de; Koene, S.; Vries, M.C. de; McFarland, R.; Roobol, T.; Rodenburg, R.J.T.; Verhaak, C.M. |
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