#RAREvolution - Stand up for Scientific Research on Rare Diseases

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#RAREvolution - Stand up for Scientific Research on Rare Diseases

机译：#Rarevolution - 站起来为稀有疾病的科学研究

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《Molecular syndromology 》 |2018年第2期| 共1页
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1. #RAREvolution - Stand up for Scientific Research on Rare Diseases [J] . Molecular syndromology . 2018 ,第2期

机译：#Rarevolution - 站起来为稀有疾病的科学研究
2. Towards Using Scientific Publications to Automatically Extract Information on Rare Diseases [J] . Cousyn Charles, Bouchard Kevin, Gaboury Sebastien, Mobile networks & applications . 2020 ,第3期

机译：在利用科学出版物自动提取稀有疾病的信息
3. The importance of case reports in advancing scientific knowledge of rare diseases. [J] . Carey JC Advances in Experimental Medicine and Biology . 2010 ,第Null期

机译：病例报告在促进罕见病科学知识方面的重要性。
4. Helping parents to understand rare diseases [C] . Marina Sokolova, Ilya Ioshikhes, Hamid Poursepanj, Workshop on NLP for medicine and biology 2013 . 2013

机译：帮助父母了解罕见疾病
5. Rare, but Significant: Identifying Challenges in the Rare Disease Community and Teaching High School Students about Rare Diseases [D] . Su, Julia 2012

机译：稀有但重要：识别稀有疾病社区中的挑战并向高中生讲授稀有疾病
6. #RAREvolution – Stand up for Scientific Research on Rare Diseases [O] . Olivier Menzel 2018

机译：#RAREvolution –捍卫罕见病科学研究
7. We develop a model of scientific creativity and test it in the field of rare diseases. Our model is based on the results of an in-depth case study of the Rett syndrome. Archival analysis, bibliometric techniques and expert surveys are combined with network analysis to identify the most creative scientists. First, alternative measures of generative and combinatorial creativity are compared. Then, we generalize our results and present a stochastic model of socio-semantic network evolution. The model predictions are tested with multiple networks of rare disease specialties. We find that new scientific collaborations among experts in a field enhance combinatorial creativity. Instead, high entry rates of novices are negatively related to generative creativity. By extending the set of useful concepts, creative scientists gain in centrality. At the same time, by increasing their centrality in the scientific community, scientists can replicate and generalize their results, thus contributing to a scientific paradigm. [O] . Massimo Riccaboni, Maria Laura Frigotto 100

机译：我们开发了一种科学创造力模型，并在稀有疾病领域进行测试。我们的模型基于对Rett综合征的深入案例研究的结果。档案分析，文献计量技术和专家调查与网络分析相结合，以确定最具创造力的科学家。首先，比较生成和组合创造力的替代措施。然后，我们推广了我们的结果，并提出了社会语义网络演化的随机模型。模型预测用多个罕见疾病专业网络进行测试。我们发现，一个领域的专家之间的新的科学合作增强了组合创造力。相反，新手的高入门率与生成创造力负相关。通过扩展这组有用的概念，创造性的科学家获得了中心地位。同时，通过增加科学界的中心地位，科学家们可以复制和推广他们的结果，从而促进科学范式的发展。
8. Notiziario dell'Istituto Superiore di Sanita, Volume 22, Numero 4, Supplemento 1 - 2009. Malattie rare farmaci orfani: a cura del Centro Nazlonale Malattie Rare, (28th of February 2009. World Day for Rare Diseases) [R] . 2009

机译：Notiziario dell'Istituto superiore di sanita，Volume 22，Numero 4，supplemento 1 - 2009. malattie rare farmaci orfani：a cura del Centro Nazlonale malattie Rare，（2009年2月28日。稀有疾病世界日）

#RAREvolution - Stand up for Scientific Research on Rare Diseases

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