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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Eva Morava

Department of Pediatrics at the Institute for Genetic and Metabolic Diseases

Radboud University Nijmegen Medical Centre

PO Box 9101

6500 HB Nijmegen

Netherlands

[email]@*.umcn.nl

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Department of Pediatrics at the Institute for Genetic and Metabolic Diseases, Radboud University Nijmegen Medical Centre, PO Box 9101, 6500 HB Nijmegen, Netherlands. 2010 - 2012
  • Department of Pediatrics, UMC Radboud Nijmegen, Nijmegen, Netherlands. 2004 - 2011
  • Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, UMC Nijmegen, Netherlands. 2003 - 2005

References

  1. Defining the Phenotype in Congenital Disorder of Glycosylation Due to ALG1 Mutations. Morava, E., Vodopiutz, J., Lefeber, D.J., Janecke, A.R., Schmidt, W.M., Lechner, S., Item, C.B., Sykut-Cegielska, J., Adamowicz, M., Wierzba, J., Zhang, Z.H., Mihalek, I., Stockler, S., Bodamer, O.A., Lehle, L., Wevers, R.A. Pediatrics (2012) [Pubmed]
  2. CDG - an update. Morava, E., Lefeber, D. J. Inherit. Metab. Dis. (2011) [Pubmed]
  3. Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. Morava, E., Kühnisch, J., Drijvers, J.M., Robben, J.H., Cremers, C., van Setten, P., Branten, A., Stumpp, S., de Jong, A., Voesenek, K., Vermeer, S., Heister, A., Claahsen-van der Grinten, H.L., O'Neill, C.W., Willemsen, M.A., Lefeber, D., Deen, P.M., Kornak, U., Kremer, H., Wevers, R.A. J. Clin. Endocrinol. Metab. (2011) [Pubmed]
  4. A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Morava, E., Wevers, R.A., Cantagrel, V., Hoefsloot, L.H., Al-Gazali, L., Schoots, J., van Rooij, A., Huijben, K., van Ravenswaaij-Arts, C.M., Jongmans, M.C., Sykut-Cegielska, J., Hoffmann, G.F., Bluemel, P., Adamowicz, M., van Reeuwijk, J., Ng, B.G., Bergman, J.E., van Bokhoven, H., Körner, C., Babovic-Vuksanovic, D., Willemsen, M.A., Gleeson, J.G., Lehle, L., de Brouwer, A.P., Lefeber, D.J. Brain (2010) [Pubmed]
  5. Autosomal recessive cutis laxa syndrome revisited. Morava, E., Guillard, M., Lefeber, D.J., Wevers, R.A. Eur. J. Hum. Genet. (2009) [Pubmed]
  6. Dystonia and deafness due to SUCLA2 defect; Clinical course and biochemical markers in 16 children. Morava, E., Steuerwald, U., Carrozzo, R., Kluijtmans, L.A., Joensen, F., Santer, R., Dionisi-Vici, C., Wevers, R.A. Mitochondrion (2009) [Pubmed]
  7. Ophthalmological abnormalities in children with congenital disorders of glycosylation type I. Morava, E., Wosik, H.N., Sykut-Cegielska, J., Adamowicz, M., Guillard, M., Wevers, R.A., Lefeber, D.J., Cruysberg, J.R. Br. J. Ophthalmol (2009) [Pubmed]
  8. Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps. Morava, E., Wosik, H., Kárteszi, J., Guillard, M., Adamowicz, M., Sykut-Cegielska, J., Hadzsiev, K., Wevers, R.A., Lefeber, D.J. J. Inherit. Metab. Dis. (2008) [Pubmed]
  9. Defining the phenotype in an autosomal recessive cutis laxa syndrome with a combined congenital defect of glycosylation. Morava, E., Lefeber, D.J., Urban, Z., de Meirleir, L., Meinecke, P., Gillessen Kaesbach, G., Sykut-Cegielska, J., Adamowicz, M., Salafsky, I., Ranells, J., Lemyre, E., van Reeuwijk, J., Brunner, H.G., Wevers, R.A. Eur. J. Hum. Genet. (2008) [Pubmed]
  10. A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermia. Morava, E., Zeevaert, R., Korsch, E., Huijben, K., Wopereis, S., Matthijs, G., Keymolen, K., Lefeber, D.J., De Meirleir, L., Wevers, R.A. Eur. J. Hum. Genet. (2007) [Pubmed]
  11. Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome. Morava, E., Bongers, E.M., Kress, W., Sie, L., Rodenburg, R., van den Heuvel, L., Brunner, H.G. Clin. Dysmorphol. (2007) [Pubmed]
  12. Mitochondrial disease criteria: diagnostic applications in children. Morava, E., van den Heuvel, L., Hol, F., de Vries, M.C., Hogeveen, M., Rodenburg, R.J., Smeitink, J.A. Neurology (2006) [Pubmed]
  13. Mitochondrial dysfunction in Brooks-Wisniewski-Brown syndrome. Morava, E., Rodenburg, R., Hol, F., De Meirleir, L., Seneca, S., Busch, R., van den Heuvel, L., Smeitink, J. Am. J. Med. Genet. A (2006) [Pubmed]
  14. High myopia and congenital myopathy with partial pachygyria in cutis laxa syndrome. Morava, E., Willemsen, M.A., Wopereis, S., Ter Laak, H., Lefeber, D., Wevers, R.A., Cruysberg, J.R. Eur. J. Ophthalmol (2006) [Pubmed]
  15. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations. Morava, E., Rodenburg, R.J., Hol, F., de Vries, M., Janssen, A., van den Heuvel, L., Nijtmans, L., Smeitink, J. Am. J. Med. Genet. A (2006) [Pubmed]
  16. Normal serum alanine concentration differentiates transient neonatal lactic acidemia from an inborn error of energy metabolism. Morava, E., Hogeveen, M., De Vries, M., Ruitenbeek, W., de Boode, W.P., Smeitink, J. Biol. Neonate (2006) [Pubmed]
  17. Dietary intervention and oxidative phosphorylation capacity. Morava, E., Rodenburg, R., van Essen, H.Z., De Vries, M., Smeitink, J. J. Inherit. Metab. Dis. (2006) [Pubmed]
  18. Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation. Morava, E., Hamel, B., Hol, F., Rodenburg, R., Smeitink, J. Am. J. Med. Genet. A (2006) [Pubmed]
  19. Defective protein glycosylation in patients with cutis laxa syndrome. Morava, E., Wopereis, S., Coucke, P., Gillessen-Kaesbach, G., Voit, T., Smeitink, J., Wevers, R., Grünewald, S. Eur. J. Hum. Genet. (2005) [Pubmed]
  20. Mitochondrial dysfunction in a patient with Joubert syndrome. Morava, E., Dinopoulos, A., Kroes, H.Y., Rodenburg, R.J., van Bokhoven, H., van den Heuvel, L.P., Smeitink, J.A. Neuropediatrics (2005) [Pubmed]
  21. Biochemical characteristics and increased tetraglucoside excretion in patients with phosphorylase kinase deficiency. Morava, E., Wortmann, S.B., van Essen, H.Z., Liebrand van Sambeek, R., Wevers, R., van Diggelen, O.P. J. Inherit. Metab. Dis. (2005) [Pubmed]
  22. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome. Morava, E., Sengers, R., Ter Laak, H., Van Den Heuvel, L., Janssen, A., Trijbels, F., Cruysberg, H., Boelen, C., Smeitink, J. Eur. J. Pediatr. (2004) [Pubmed]
  23. Screening for CDG type Ia in Joubert syndrome. Morava, E., Cser, B., Kárteszi, J., Huijben, K., Szonyi, L., Kosztolanyi, G., Wevers, R. Med. Sci. Monit. (2004) [Pubmed]
  24. Tall stature and progressive overweight in mitochondrial encephalopathy. Morava, E., Hol, F.A., Janssen, A., Smeitink, J. J. Inherit. Metab. Dis. (2003) [Pubmed]
 
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