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Full TextIssue DateTitleAuthor(s)
2006Females with PDHA1 gene mutations: a diagnostic challenge.Willemsen, M.A.A.P.; Rodenburg, R.J.T.; Teszas, A.; Heuvel, L.P.W.J. van den; Kosztolanyi, G.Y.; Morava, E.
2006Influence of genetic polymorphisms on bone disease of preterm infants.Funke, S.; Morava, E.; Czako, M.; Vida, G.; Ertl, T.; Kosztolanyi, G.Y.
2006Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology.Janssen, A.J.M.; Trijbels, J.M.F.; Sengers, R.C.A.; Wintjes, L.T.; Ruitenbeek, W.; Smeitink, J.A.M.; Morava, E.; Engelen, B.G.M. van; Heuvel, L.P.W.J. van den; Rodenburg, R.J.T.
2006Skeletal muscle ultrasonography in children with a dysfunction in the oxidative phosphorylation system.Pillen, S.; Morava, E.; Keimpema, M. Van; Laak, H.J. ter; Vries, M.C. de; Rodenburg, R.J.T.; Zwarts, M.J.
2006Determination of the mutation spectrum of the EXT1/EXT2 genes in British Caucasian patients with multiple osteochondromas, and exclusion of six candidate genes in EXT negative cases.Lonie, L.; Porter, D.E.; Fraser, M.; Cole, T.; Wise, C.; Yates, L.; Wakeling, E.; Blair, E.; Morava, E.; Monaco, A.P.; Ragoussis, J.
2006Transient progeroid phenotype and lipodystrophy in mosaic polyploidy.Karteszi, J.; Kosztolanyi, G.Y.; Czako, M.; Hadzsiev, K.; Morava, E.
2006Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism.Morava, E.; Hogeveen, M.; Vries, M. de; Ruitenbeek, W.; Boode, W.P. de; Smeitink, J.A.M.
2006Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome.Morava, E.; Rodenburg, R.J.T.; Hol, F.A.; Meirleir, L. de; Seneca, S.; Busch, R.; Heuvel, L.P.W.J. van den; Smeitink, J.A.M.
2006Mitochondrial disease criteria: diagnostic applications in children.Morava, E.; Heuvel, L.P.W.J. van den; Hol, F.A.; Vries, M.C. de; Hogeveen, M.; Rodenburg, R.J.T.; Smeitink, J.A.M.
2006A scale to monitor progression and treatment of mitochondrial disease in children.Phoenix, C.; Schaefer, A.M.; Elson, J.L.; Morava, E.; Bugiani, M.; Uziel, G.; Smeitink, J.A.M.; Turnbull, D.M.; McFarland, R.

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