两年期报告:MAGI遗传和罕见病研究、诊断和治疗中心与近东大学DESAM研究所的合作

IF 1.2 Q3 MULTIDISCIPLINARY SCIENCES The EuroBiotech Journal Pub Date : 2020-10-01 DOI:10.2478/ebtj-2020-0020
M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ
{"title":"两年期报告:MAGI遗传和罕见病研究、诊断和治疗中心与近东大学DESAM研究所的合作","authors":"M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ","doi":"10.2478/ebtj-2020-0020","DOIUrl":null,"url":null,"abstract":"Abstract Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.","PeriodicalId":22379,"journal":{"name":"The EuroBiotech Journal","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2020-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute\",\"authors\":\"M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ\",\"doi\":\"10.2478/ebtj-2020-0020\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"Abstract Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.\",\"PeriodicalId\":22379,\"journal\":{\"name\":\"The EuroBiotech Journal\",\"volume\":null,\"pages\":null},\"PeriodicalIF\":1.2000,\"publicationDate\":\"2020-10-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"The EuroBiotech Journal\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.2478/ebtj-2020-0020\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q3\",\"JCRName\":\"MULTIDISCIPLINARY SCIENCES\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"The EuroBiotech Journal","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.2478/ebtj-2020-0020","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"MULTIDISCIPLINARY SCIENCES","Score":null,"Total":0}
引用次数: 0

摘要

科学合作比以往更加普遍。在生物医学科学的许多领域,具有不同科学背景和观点的研究人员之间的合作使研究人员能够处理复杂的问题并解决复杂的问题。特别是,科学和技术方面的国际合作和改进使人们能够解决与许多罕见疾病的病因有关的机制。因此,一些罕见疾病的诊断和治疗方案得到了改进。近东大学DESAM研究所与MAGI遗传与罕见病诊治研究中心的合作取得了显著成果。重要的是,这次合作通过鉴定儿科病例中常见的新型罕见遗传致病变异,为罕见病研究做出了贡献。因此,许多儿科未解病例已被诊断。本文的主要内容是强调近东大学DESAM研究所与MAGI遗传与罕见病诊断与治疗中心合作的成果,该合作通过发现新的罕见遗传致病变异对科学文献做出了重大贡献。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
The Biennial report: The collaboration between MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases and Near East University DESAM Institute
Abstract Background Scientific collaboration is more common now than it was before. In many areas of biomedical science, collaborations between researchers with different scientific backgrounds and perspectives have enabled researchers to address complicated questions and solve complex problems. Particularly, international collaborations and improvements in science and technology have shed light on solving the mechanisms that are involved in the etiology of many rare diseases. Hence, the diagnosis and treatment options have been improved for a number of rare diseases. The collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases brought out significant results. Importantly, this collaboration contributed to the rare disease research by the identification of novel rare genetic disease-causing variations commonly in pediatric cases. Consequently, many pediatric unsolved cases have been diagnosed. The main scope of this article is to emphasize the outcomes of the collaboration between Near East University DESAM Institute and MAGI Research, Diagnosis and Treatment Center of Genetic and Rare Diseases which contributed greatly to the scientific literature by identifying novel rare genetic disease-causing variation.
求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
The EuroBiotech Journal
The EuroBiotech Journal Agricultural and Biological Sciences-Food Science
CiteScore
3.60
自引率
0.00%
发文量
17
审稿时长
10 weeks
期刊最新文献
Artificial cells: A potentially groundbreaking field of research and therapy Germination and early seedling growth in four Plantago species in response to Zn, Cu and Fe Different Level of Tolerance to Herbicides is Displayed by Triticum aestivum L. Cultivars Depending on Herbicide Category and Mode of Application Efficacy of Beauveria bassiana and Metarhizium anisopliae against wheat aphid Comparative effect of probiotic and antibiotic on honey bees colony functional traits
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1