𝔖 Bobbio Scriptorium
✦   LIBER   ✦

The Swedish rare disease information database and the Swedish information centre for rare diseases

✍ Scribed by Christina Greek-Winald, Birgitta Gustafsson…

Book ID
120696992
Publisher
BioMed Central
Year
2010
Tongue
English
Weight
177 KB
Volume
5
Category
Article
ISSN
1750-1172

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RAMEDIS: a comprehensive information sys
RAMEDIS: a comprehensive information system for variations and corresponding phenotypes of rare metabolic diseases
✍ Thoralf Töpel; Dagmar Scheible; Friedrich Trefz; Ralf Hofestädt 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 437 KB

RAMEDIS is a manually curated resource of human variations and corresponding phenotypes for rare metabolic diseases. The system is based on separate case reports that comprehensively describe various aspects of anonymous case study, e.g. molecular genetics, symptoms, lab findings, treatments, etc. S