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1دورية أكاديمية
المؤلفون: Yongcheng Pan, Ying Jiang, Juan Wan, Zhengmao Hu, Hong Jiang, Lu Shen, Beisha Tang, Yun Tian, Qiong Liu
المصدر: Cell & Bioscience, Vol 13, Iss 1, Pp 1-16 (2023)
مصطلحات موضوعية: NOTCH2NLC gene, GGC repeat expansion, NOTCH2NLC-polyG inclusions, Cardiomyocyte, Cardiac dysfunction, Mitochondria, Biotechnology, TP248.13-248.65, Biology (General), QH301-705.5, Biochemistry, QD415-436
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2045-3701Test
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2دورية أكاديمية
المؤلفون: Hongxu Pan, Zhenhua Liu, Jinghong Ma, Yuanyuan Li, Yuwen Zhao, Xiaoxia Zhou, Yaqin Xiang, Yige Wang, Xun Zhou, Runcheng He, Yali Xie, Qiao Zhou, Kai Yuan, Qian Xu, Qiying Sun, Junling Wang, Xinxiang Yan, Hainan Zhang, Chunyu Wang, Lifang Lei, Weiguo Liu, Xuejing Wang, Xuebing Ding, Tao Wang, Zheng Xue, Zhentao Zhang, Ling Chen, Qing Wang, Yonghong Liu, Jiayu Tang, Xuewei Zhang, Shifang Peng, Chaodong Wang, Jianqing Ding, Chunfeng Liu, Lijuan Wang, Haibo Chen, Lu Shen, Hong Jiang, Xinyin Wu, Hongzhuan Tan, Dan Luo, Shuiyuan Xiao, Xiang Chen, Jieqiong Tan, Zhengmao Hu, Chao Chen, Kun Xia, Zhuohua Zhang, Jia Nee Foo, Cornelis Blauwendraat, Mike A. Nalls, Andrew B. Singleton, Jun Liu, Piu Chan, Houfeng Zheng, Jinchen Li, Jifeng Guo, Jian Yang, Beisha Tang, the Parkinson’s Disease & Movement Disorders Multicenter Database and Collaborative Network in China (PD-MDCNC)
المصدر: npj Parkinson's Disease, Vol 9, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2373-8057Test
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3دورية أكاديمية
المؤلفون: Guodong Chen, Bin Yu, Senwei Tan, Jieqiong Tan, Xiangbin Jia, Qiumeng Zhang, Xiaolei Zhang, Qian Jiang, Yue Hua, Yaoling Han, Shengjie Luo, Kendra Hoekzema, Raphael A. Bernier, Rachel K. Earl, Evangeline C. Kurtz-Nelson, Michaela J. Idleburg, Suneeta Madan-Khetarpal, Rebecca Clark, Jessica Sebastian, Alberto Fernandez-Jaen, Sara Alvarez, Staci D. King, Luiza L.P. Ramos, Mara Lucia S.F. Santos, Donna M. Martin, Dan Brooks, Joseph D. Symonds, Ioana Cutcutache, Qian Pan, Zhengmao Hu, Ling Yuan, Evan E. Eichler, Kun Xia, Hui Guo
المصدر: The Journal of Clinical Investigation, Vol 132, Iss 19 (2022)
مصطلحات موضوعية: Genetics, Neuroscience, Medicine
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1558-8238Test
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4دورية أكاديمية
المؤلفون: Yu Peng, Yu Zheng, Zifeng Deng, Shuju Zhang, Yilan Tan, Zhengmao Hu, Lijuan Tao, Yulin Luo
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: congenital cataract, crystallin, CRYGC, microphthalmia, whole-exome sequencing, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.866246/fullTest; https://doaj.org/toc/1664-8021Test
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5دورية أكاديمية
المؤلفون: Yu Zheng, Yuming Peng, Shuju Zhang, Hongmei Zhao, Weijian Chen, Yongjia Yang, Zhengmao Hu, Qiang Yin, Yu Peng
المصدر: Frontiers in Genetics, Vol 13 (2022)
مصطلحات موضوعية: microvillus inclusion, RNA splicing, intron retention, minigene assay, MYO5B, diarrhea, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.872836/fullTest; https://doaj.org/toc/1664-8021Test
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6دورية أكاديمية
المؤلفون: Ashfaque Ahmed, Meng Wang, Rizwan Khan, Abid Ali Shah, Hui Guo, Sajid Malik, Kun Xia, Zhengmao Hu
المصدر: BMC Medical Genomics, Vol 14, Iss 1, Pp 1-8 (2021)
مصطلحات موضوعية: Hearing loss, OTOF, Splice acceptor site, Minigene, Internal medicine, RC31-1245, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1755-8794Test
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7دورية أكاديمية
المؤلفون: Tengfei Luo, Kuokuo Li, Zhengbao Ling, Guihu Zhao, Bin Li, Zheng Wang, Xiaomeng Wang, Ying Han, Lu Xia, Yi Zhang, Qiao Zhou, Zhenghuan Fang, Yijing Wang, Qian Chen, Xun Zhou, Hongxu Pan, Yuwen Zhao, Yige Wang, Lijie Dong, Yuanfeng Huang, Zhengmao Hu, Qian Pan, Kun Xia, Jinchen Li
المصدر: Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 1414-1422 (2021)
مصطلحات موضوعية: Developmental disorders, Folate-related gene, De novo mutation, Candidate disease-associated genes, Expression patterns, Biotechnology, TP248.13-248.65
وصف الملف: electronic resource
العلاقة: http://www.sciencedirect.com/science/article/pii/S2001037021000623Test; https://doaj.org/toc/2001-0370Test
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8دورية أكاديمية
المؤلفون: Lin Wang, Yi Zhang, Kuokuo Li, Zheng Wang, Xiaomeng Wang, Bin Li, Guihu Zhao, Zhenghuan Fang, Zhengbao Ling, Tengfei Luo, Lu Xia, Yanping Li, Hui Guo, Zhengmao Hu, Jinchen Li, Zhongsheng Sun, Kun Xia
المصدر: Molecular Autism, Vol 11, Iss 1, Pp 1-14 (2020)
مصطلحات موضوعية: Autism spectrum disorder, Recessive inherited variant, De novo variant, Expression pattern, Functional network, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: http://link.springer.com/article/10.1186/s13229-020-00382-xTest; https://doaj.org/toc/2040-2392Test
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9دورية أكاديمية
المؤلفون: Yongzhi Xie, Zhiqiang Lin, Xiaobo Li, Lei Liu, Shunxiang Huang, Huadong Zhao, Binghao Wang, Wanqian Cao, Zhengmao Hu, Jifeng Guo, Lu Shen, Beisha Tang, Ruxu Zhang
المصدر: Frontiers in Neurology, Vol 12 (2022)
مصطلحات موضوعية: Charcot-Marie-Tooth diseases, concomitant variants, intrafamilial clinical heterogeneity, double trouble, genetic modifier, Neurology. Diseases of the nervous system, RC346-429
وصف الملف: electronic resource
العلاقة: https://www.frontiersin.org/articles/10.3389/fneur.2021.736704/fullTest; https://doaj.org/toc/1664-2295Test
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10دورية أكاديمية
المؤلفون: Hui Guo, Elisa Bettella, Paul C. Marcogliese, Rongjuan Zhao, Jonathan C. Andrews, Tomasz J. Nowakowski, Madelyn A. Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu, Sharayu Jangam, Cenying Liu, Hailun Ni, Marjolein H. Willemsen, Bregje W. van Bon, Tuula Rinne, Servi J. C. Stevens, Tjitske Kleefstra, Han G. Brunner, Helger G. Yntema, Min Long, Wenjing Zhao, Zhengmao Hu, Cindy Colson, Nicolas Richard, Charles E. Schwartz, Corrado Romano, Lucia Castiglia, Maria Bottitta, Shweta U. Dhar, Deanna J. Erwin, Lisa Emrick, Boris Keren, Alexandra Afenjar, Baosheng Zhu, Bing Bai, Pawel Stankiewicz, Kristin Herman, University of Washington Center for Mendelian Genomics, Saadet Mercimek-Andrews, Jane Juusola, Amy B. Wilfert, Rami Abou Jamra, Benjamin Büttner, Heather C. Mefford, Alison M. Muir, Ingrid E. Scheffer, Brigid M. Regan, Stephen Malone, Jozef Gecz, Jan Cobben, Marjan M. Weiss, Quinten Waisfisz, Emilia K. Bijlsma, Mariëtte J. V. Hoffer, Claudia A. L. Ruivenkamp, Stefano Sartori, Fan Xia, Jill A. Rosenfeld, Raphael A. Bernier, Michael F. Wangler, Shinya Yamamoto, Kun Xia, Alexander P. A. Stegmann, Hugo J. Bellen, Alessandra Murgia, Evan E. Eichler
المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-17 (2019)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test