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Full TextIssue DateTitleAuthor(s)
2011Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous familyMorava, 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.
2011Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathwayKleefstra, 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.
2010De Barsy sydrome and ATP6V0A2-CDG Reply.Morava, E.; Guillard, M.; Lefeber, Dirk; Wevers, R.A.
2010Depressive behaviour in children diagnosed with a mitochondrial disorderMorava, 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.
2010MACS syndrome: A combined collagen and elastin disorder due to abnormal Golgi trafficking.Albrecht, B.; Brouwer, A.P.M. de; Lefeber, D.J.; Cremer, K.; Hausser, I.; Rossen, N.; Wortmann, S.B.; Wevers, R.A.; Kornak, U.; Morava, E.
2010Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.Drijvers, J.M.; Lefeber, D.J.; Munnik, S.A. de; Pfundt, R.; Leeuw, N. de; Marcelis, C.L.M.; Thiel, C.; Koerner, C.; Wevers, R.A.; Morava, E.
2010Depressive behaviour in children diagnosed with a mitochondrial disorder.Morava, E.; Gardeitchik, T.; Kozicz, T.; Boer, L. de; Koene, S.; Vries, M.C. de; McFarland, R.; Roobol, T.; Rodenburg, R.J.T.; Verhaak, C.M.
2010Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.Engelke, U.F.H.; Zijlstra, F.S.M.; Mochel, F.; Valayannopoulos, V.; Rabier, D.; Kluijtmans, L.A.J.; Perl, A.; Verhoeven-Duif, N.M.; Lonlay, P. de; Wamelink, M.M.; Jakobs, C.; Morava, E.; Wevers, R.A.
2010IDH2 mutations in patients with D-2-hydroxyglutaric aciduria.Kranendijk, M.; Struys, E.A.; Schaftingen, E. van; Gibson, K.M.; Kanhai, W.A.; Knaap, M.S. van der; Amiel, J.; Buist, N.R.; Das, A.M.; Klerk, J.B. De; Feigenbaum, A.S.; Grange, D.K.; Hofstede, F.C.; Holme, E.; Kirk, E.P.; Korman, S.H.; Morava, E.; Morris, A.; Smeitink, J.A.M.; Sukhai, R.N.; Vallance, H.; Jakobs, C.; Salomons, G.S.

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