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

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Hans R. Waterham

Laboratory Genetic Metabolic Diseases (F0-222)

Academic Medical Center

Meibergdreef 9

1105AZ Amsterdam

The Netherlands.

[email]@amc.uva.nl

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Laboratory Genetic Metabolic Diseases (F0-222), Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands.. 2012
  • Department of Pediatrics, Academic Medical Center, Amsterdam, Netherlands. 1998 - 2007
  • Laboratory Genetic Metabolic Diseases, F0-224, Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, Netherlands. 2000 - 2006

References

  1. Mutational spectrum of Smith-Lemli-Opitz syndrome. Waterham, H.R., Hennekam, R.C. Am. J. Med. Genet. C. Semin. Med. Genet (2012) [Pubmed]
  2. A lethal defect of mitochondrial and peroxisomal fission. Waterham, H.R., Koster, J., van Roermund, C.W., Mooyer, P.A., Wanders, R.J., Leonard, J.V. N. Engl. J. Med. (2007) [Pubmed]
  3. Defects of cholesterol biosynthesis. Waterham, H.R. FEBS Lett. (2006) [Pubmed]
  4. Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency. Mandey, S.H., Schneiders, M.S., Koster, J., Waterham, H.R. Hum. Mutat. (2006) [Pubmed]
  5. Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene. Waterham, H.R., Koster, J., Mooyer, P., Noort Gv, G., Kelley, R.I., Wilcox, W.R., Wanders, R.J., Hennekam, R.C., Oosterwijk, J.C. Am. J. Hum. Genet. (2003) [Pubmed]
  6. Inherited disorders of cholesterol biosynthesis. Waterham, H.R. Clin. Genet. (2002) [Pubmed]
  7. Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis. Waterham, H.R., Koster, J., Romeijn, G.J., Hennekam, R.C., Vreken, P., Andersson, H.C., FitzPatrick, D.R., Kelley, R.I., Wanders, R.J. Am. J. Hum. Genet. (2001) [Pubmed]
  8. Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome. Waterham, H.R., Wanders, R.J. Biochim. Biophys. Acta (2000) [Pubmed]
  9. Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene. Waterham, H.R., Wijburg, F.A., Hennekam, R.C., Vreken, P., Poll-The, B.T., Dorland, L., Duran, M., Jira, P.E., Smeitink, J.A., Wevers, R.A., Wanders, R.J. Am. J. Hum. Genet. (1998) [Pubmed]
 
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