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

Andreas R. Janecke

Department of Medical Biology and Human Genetics

Innsbruck Medical University

Schöpfstrasse 41

A-6020 Innsbruck

Austria

[email]@uibk.ac.at

Name/email consistency: high

 
 
 
 
 
 
 

Affiliations

  • Department of Medical Biology and Human Genetics, Innsbruck Medical University, Schöpfstrasse 41, A-6020 Innsbruck, Austria. 2005
  • Institute of Medical Biology and Human Genetics, University of Innsbruck, Austria. 2000 - 2004
  • Institute of Human Genetics, University of Heidelberg, Germany. 1999

References

  1. GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form. Janecke, A.R., Hennies, H.C., Günther, B., Gansl, G., Smolle, J., Messmer, E.M., Utermann, G., Rittinger, O. Am. J. Med. Genet. A (2005) [Pubmed]
  2. Neonatal type IV glycogen storage disease associated with "null" mutations in glycogen branching enzyme 1. Janecke, A.R., Dertinger, S., Ketelsen, U.P., Bereuter, L., Simma, B., Müller, T., Vogel, W., Offner, F.A. J. Pediatr. (2004) [Pubmed]
  3. Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria. Janecke, A.R., Hirst-Stadlmann, A., Günther, B., Utermann, B., Müller, T., Löffler, J., Utermann, G., Nekahm-Heis, D. Hum. Genet. (2002) [Pubmed]
  4. De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss. Janecke, A.R., Nekahm, D., Löffler, J., Hirst-Stadlmann, A., Müller, T., Utermann, G. Hum. Genet. (2001) [Pubmed]
  5. Molecular genetics of type 1 glycogen storage disease. Janecke, A.R., Mayatepek, E., Utermann, G. Mol. Genet. Metab. (2001) [Pubmed]
  6. Mutation analysis in glycogen storage disease type 1 non-a. Janecke, A.R., Lindner, M., Erdel, M., Mayatepek, E., Möslinger, D., Podskarbi, T., Fresser, F., Stöckler-Ipsiroglu, S., Hoffmann, G.F., Utermann, G. Hum. Genet. (2000) [Pubmed]
  7. Molecular diagnosis of type 1c glycogen storage disease. Janecke, A.R., Bosshard, N.U., Mayatepek, E., Schulze, A., Gitzelmann, R., Burchell, A., Bartram, C.R., Janssen, B. Hum. Genet. (1999) [Pubmed]
 
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