RAMEDIS
- U. Mischke, U. Scholz, T. Töpel, D. Scheible, R. Hofestädt, F. K. Trefz
RAMEDIS - Rare Metabolic Diseases Publishing Tool for Genotype-Phenotype Correlation.
In MedInfo 2001: Proceedings of the 10th World Congress on Health and Medical Informatics, London, September 2 - 5, 2001, S. 970-974. Amsterdam: IOS Press, 2001.
- T. Töpel, U. Scholz, U. Mischke, D. Scheible, R. Hofestädt, F. Trefz
Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis
In Silico Biology, 2, 0036, 2002.
Online Journal: http://www.bioinfo.de/isb/2002/02/0036/
- T. Töpel, U. Mischke, D. Scheible, F. Trefz, R. Hofestädt
RAMEDIS: Vernetzte Forschung am Beispiel angeborener Stoffwechselerkrankungen.
In Informatik, Biometrie und Epidemiologie in Medizin und Biologie, Band 33, Nr. 2-3, S. 79-80, 2002.
- T. Töpel, R. Hofestädt, D. Scheible, F. Trefz
RAMEDIS, the rare metabolic diseases database.
Applied Bioinformatics, 5(2):115-118, 2006.
- T. Topel, J. Neumann and R. Hofestadt.
A medical case-based reasoning component for the rare metabolic diseases database RAMEDIS.
In Proceedings of The 20th IEEE International Symposium on Computer-Based Medical Systems (CBMS 2007), Maribor, Slovenia, June 20 - 22, 2007, pp. 7-11, 2007.
- F. Trefz, D. Scheible, H. Götz, T. Töpel, R. Hofestädt, G. Frauendienst-Egger:
METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn
errors on metabolism. Journal of Inherited Metabolic Disease, 2008, 31:289.
- T. Töpel, D. Scheible, F. Trefz, R. Hofestädt
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.
Hum Mutat., 31(1):E1081-E1088, 2010 (Published Online: 1 Dec 2009).
DOI: 10.1002/humu.21169
- T. Töpel, D. Scheible, F. Trefz, R. Hofestädt
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases.
Human Mutation, 31(1):E1081-E1088, 2010 (Published Online: 1 Dec 2009).