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| Full Text | Issue Date | Title | Author(s) | | 2006 | Females 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. |
| 2006 | Influence of genetic polymorphisms on bone disease of preterm infants. | Funke, S.; Morava, E.; Czako, M.; Vida, G.; Ertl, T.; Kosztolanyi, G.Y. |
| 2006 | Measurement 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. |
| 2006 | Skeletal 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. |
| 2006 | Determination 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. |
| 2006 | Transient progeroid phenotype and lipodystrophy in mosaic polyploidy. | Karteszi, J.; Kosztolanyi, G.Y.; Czako, M.; Hadzsiev, K.; Morava, E. |
| 2006 | Normal 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. |
| 2006 | Mitochondrial 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. |
| 2006 | Mitochondrial 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. |
| 2006 | A 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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