1,720,972 research outputs found

    RAMEDIS: Vernetzte Forschung am Beispiel angeborener Stoffwechselerkrankungen.

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    Töpel T, Mischke U, Scheible D, Trefz F, Hofestädt R. RAMEDIS: Vernetzte Forschung am Beispiel angeborener Stoffwechselerkrankungen. Informatik, Biometrie und Epidemiologie in Medizin und Biologie. 2002;33(2 - 3):79-80

    Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis

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    Töpel T, Scholz U, Mischke U, Scheible D, Hofestädt R, Trefz F. Supporting genotype-phenotype correlation with the rare metabolic diseases database Ramedis. Silico Biology. 2002;2:36

    Harnstoffzykluserkrankungen und Organoazidämien: Aufnahme in das erweiterte Neugeborenen-Screening?

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    Trefz FK, Scheible D, Frauendienst-Egger G, et al. Harnstoffzykluserkrankungen und Organoazidämien: Aufnahme in das erweiterte Neugeborenen-Screening? Pädiatrie hautnah,. 2005;17(8):19-20

    www.ramedis.de: Database for long term follow up of patients with rare metabolic diseases

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    Trefz FK, Töpel T, Scheible D, Frauendienst-Egger G, Hofestädt R. www.ramedis.de: Database for long term follow up of patients with rare metabolic diseases. JOURNAL OF INHERITED METABOLIC DISEASE. 2006;29(Suppl. 1):84

    Expanded newborn screening: Long term follow up of 25 patients with organic acidemias and urea cycle disorders

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    Trefz FK, Töpel T, Scheible D, Frauendienst-Egger G, Hofestädt R. Expanded newborn screening: Long term follow up of 25 patients with organic acidemias and urea cycle disorders. JOURNAL OF INHERITED METABOLIC DISEASE. 2006;29(Suppl. 1):84

    METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism

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    Trefz F, Scheible D, Götz H, Töpel T, Hofestädt R, Frauendienst-Egger G. METAGENE and RAMEDIS: databases for metabolic diseases and patients with inborn errors on metabolism. Journal of Inherited Metabolic Disease. 2008;31:289

    Expanded newborn screening: Long-term follow up of 63 patients screened by tandem mass spectrometry

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    Scheible D, Töpel T, Frauendienst-Egger G, Hofestädt R, Wallner S, Trefz FK. Expanded newborn screening: Long-term follow up of 63 patients screened by tandem mass spectrometry. JOURNAL OF INHERITED METABOLIC DISEASE. 2007;30(Suppl. 1):3

    RAMEDIS - Rare Metabolic Diseases Publishing Tool for Genotype-Phenotype Correlation

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    Hofestädt R, Mischke U, Scholz U, Töpel T, Scheible D, Trefz FK. RAMEDIS - Rare Metabolic Diseases Publishing Tool for Genotype-Phenotype Correlation. In: Patel VL, ed. Proceedings of the 10th World Congress on Medical Informatics. Studies in health technology and informatics. Vol 84. Amsterdam: IOS Press; 2001: 970-974

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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