Search Results - "Kortum, Xiaowei"
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Diagnostic needs for rare diseases and shared prediagnostic phenomena: Results of a German-wide expert Delphi survey
Published in PloS one (24-02-2017)“…Worldwide approximately 7,000 rare diseases have been identified. Accordingly, 4 million individuals live with a rare disease in Germany. The mean time to…”
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Common pre-diagnostic features in individuals with different rare diseases represent a key for diagnostic support with computerized pattern recognition?
Published in PloS one (10-10-2019)“…Rare diseases (RD) result in a wide variety of clinical presentations, and this creates a significant diagnostic challenge for health care professionals. We…”
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Patient's Experience in Pediatric Primary Immunodeficiency Disorders: Computerized Classification of Questionnaires
Published in Frontiers in immunology (05-04-2017)“…Primary immunodeficiency disorders (PIDs) are a heterogeneous group of more than 200 rare diseases. Timely diagnosis is of uttermost importance. Therefore, we…”
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Diagnostic support for selected neuromuscular diseases using answer-pattern recognition and data mining techniques: a proof of concept multicenter prospective trial
Published in BMC medical informatics and decision making (08-03-2016)“…Diagnosis of neuromuscular diseases in primary care is often challenging. Rare diseases such as Pompe disease are easily overlooked by the general…”
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