157 research outputs found
Chronic kidney disease in Polish elderly population aged 75+: results of the WOBASZ Senior Survey
Partial trisomy 8q. Two case reports with maternal translocation and inverted insertion: phenotype analyses and reflections on the risk
Integrating consultation and semi-automatic knowledge acquisition in a prototype-based architecture: Experiences with dysmorphic syndromes
The paper describes an application of cognitive theories from Tversky and Rosch on prototype similarity of dysmorphic syndromes cases. The knowledge-based system supports diagnostic consultation and research in dysmophic syndromes. It has been used routinely since many years. The knowledge base is semi-automatically generated from known cases of an outpatient clinic. Some results of the evaluation process of the system´s achievments are shown. General conclusions based on the experience with this successful system are discussed. Key words: integrating consultation and research, semi-automatic knowledge-acquistion, dysmorphic syndromes, prototype-based architecture, prototype similarity 1
Second observation of Silver-Russel syndrome in a carrier of a reciprocal translocation with one breakpoint at site 17q25
Familial translocation resulting in Wolf-Hirschhorn syndrome in two related unbalanced individuals: Clinical evaluation of a 39-year-old man with Wolf-Hirschhorn syndrome
Preliminary communication: Photoanthropometric analysis of individuals with the fragile X syndrome
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