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
M. C. Ergoren, E. Manara, S. Paolacci, H. Çobanogullari, G. Tuncel, Meryem Betmezoğlu, M. Bertelli, T. Şanlıdağ
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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。
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.
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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
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