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1دورية أكاديمية
المؤلفون: Hande Aypek, Christoph Krisp, Shun Lu, Shuya Liu, Dominik Kylies, Oliver Kretz, Guochao Wu, Manuela Moritz, Kerstin Amann, Kerstin Benz, Ping Tong, Zheng-mao Hu, Sulaiman M. Alsulaiman, Arif O. Khan, Maik Grohmann, Timo Wagner, Janina Müller-Deile, Hartmut Schlüter, Victor G. Puelles, Carsten Bergmann, Tobias B. Huber, Florian Grahammer
المصدر: The Journal of Clinical Investigation, Vol 132, Iss 9 (2022)
مصطلحات موضوعية: Nephrology, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1558-8238
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2دورية أكاديمية
المؤلفون: Lei Liu, Xiao-Bo Li, Zheng-Mao Hu, Shun-Xiang Huang, Bei-Sha Tang, Ru-Xu Zhang, Xin Chen
المصدر: Chinese Medical Journal, Vol 133, Iss 21, Pp 2616-2618 (2020)
مصطلحات موضوعية: Medicine
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Xin Zhao, Ming-Ming Jiang, Yi-Zhou Yan, Lei Liu, Yong-Zhi Xie, Xiao-Bo Li, Zheng-Mao Hu, Xiao-Hong Zi, Kun Xia, Bei-Sha Tang, Ru-Xu Zhang
المصدر: Chinese Medical Journal, Vol 131, Iss 2, Pp 151-155 (2018)
مصطلحات موضوعية: BSCL2, Charcot-Marie-Tooth Disease, PMP2, SH3TC2, Medicine
وصف الملف: electronic resource
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المؤلفون: Yue, Xie, Zhao, Chen, Zhe, Long, Rui-Ting, Chen, Yi-Zheng, Jiang, Ming-Jie, Liu, Lin-Liu, Peng, Hui-Rong, Peng, Na, Wan, Guangdong, Zou, Chun-Rong, Wang, Yu-Ting, Shi, Gao-Feng, Zhou, Wei-Hua, Liao, Rong, Qiu, Zheng-Mao, Hu, Kun, Xia, Bei-Sha, Tang, Hong, Jiang
المصدر: Cerebellum (London, England). 21(3)
مصطلحات موضوعية: Diffusion Tensor Imaging, Cerebellum, Humans, Spinocerebellar Ataxias, Magnetic Resonance Imaging, Pedigree
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5دورية أكاديمية
المؤلفون: Zhan-fang Sun, Yu-han Zhang, Ji-feng Guo, Qi-ying Sun, Jun-pu Mei, Han-lin Zhou, Li-ping Guan, Jin-yong Tian, Zheng-mao Hu, Jia-da Li, Kun Xia, Xin-xiang Yan, Bei-sha Tang
المصدر: PLoS ONE, Vol 9, Iss 9, p e106388 (2014)
وصف الملف: electronic resource
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6
المؤلفون: Ji-Feng, Guo, Lu, Zhang, Kai, Li, Jun-Pu, Mei, Jin, Xue, Jia, Chen, Xia, Tang, Lu, Shen, Hong, Jiang, Chao, Chen, Hui, Guo, Xue-Li, Wu, Si-Long, Sun, Qian, Xu, Qi-Ying, Sun, Piu, Chan, Hui-Fang, Shang, Tao, Wang, Guo-Hua, Zhao, Jing-Yu, Liu, Xue-Feng, Xie, Yi-Qi, Jiang, Zhen-Hua, Liu, Yu-Wen, Zhao, Zuo-Bin, Zhu, Jia-da, Li, Zheng-Mao, Hu, Xin-Xiang, Yan, Xiao-Dong, Fang, Guang-Hui, Wang, Feng-Yu, Zhang, Kun, Xia, Chun-Yu, Liu, Xiong-Wei, Zhu, Zhen-Yu, Yue, Shuai Cheng, Li, Huai-Bin, Cai, Zhuo-Hua, Zhang, Ran-Hui, Duan, Bei-Sha, Tang
المصدر: Proceedings of the National Academy of Sciences of the United States of America. 115(45)
مصطلحات موضوعية: Adult, Male, Parents, Dopamine, Gene Expression, Apoptosis, Nerve Tissue Proteins, Receptors, Cell Surface, Cohort Studies, Animals, Drosophila Proteins, Humans, Gene Regulatory Networks, Age of Onset, RNA, Small Interfering, Base Sequence, Dopaminergic Neurons, Siblings, Aryl Hydrocarbon Receptor Nuclear Translocator, Brain, Parkinson Disease, Biological Sciences, Disease Models, Animal, Drosophila melanogaster, Early Diagnosis, Case-Control Studies, Mutation, Female
URL الوصول: https://explore.openaire.eu/search/publication?articleId=pmid________::e969a89899e65376fe235655e369bf08
https://pubmed.ncbi.nlm.nih.gov/30348779 -
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المؤلفون: Sheng, Zeng, Mei-Yun, Zhang, Xue-Jing, Wang, Zheng-Mao, Hu, Jin-Chen, Li, Nan, Li, Jun-Ling, Wang, Fan, Liang, Qi, Yang, Qian, Liu, Li, Fang, Jun-Wei, Hao, Fu-Dong, Shi, Xue-Bing, Ding, Jun-Fang, Teng, Xiao-Meng, Yin, Hong, Jiang, Wei-Ping, Liao, Jing-Yu, Liu, Kai, Wang, Kun, Xia, Bei-Sha, Tang
المصدر: Journal of medical genetics. 56(4)
مصطلحات موضوعية: Adult, Male, Comparative Genomic Hybridization, Whole Genome Sequencing, Epilepsies, Myoclonic, Nerve Tissue Proteins, Sequence Analysis, DNA, Introns, Pedigree, Phenotype, Tandem Repeat Sequences, Exome Sequencing, Humans, Female, Genetic Association Studies
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المؤلفون: Xin, Zhao, Ming-Ming, Jiang, Yi-Zhou, Yan, Lei, Liu, Yong-Zhi, Xie, Xiao-Bo, Li, Zheng-Mao, Hu, Xiao-Hong, Zi, Kun, Xia, Bei-Sha, Tang, Ru-Xu, Zhang
المصدر: Chinese Medical Journal
مصطلحات موضوعية: Adult, Male, congenital, hereditary, and neonatal diseases and abnormalities, Adolescent, SH3TC2, Intracellular Signaling Peptides and Proteins, Proteins, Myelin P2 Protein, Cohort Studies, Charcot-Marie-Tooth Disease, GTP-Binding Protein gamma Subunits, Mutation, Humans, Female, Original Article, BSCL2, PMP2
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المؤلفون: Chu Feng He, Ling Yun Mei, Xue Zhong Liu, Lu Jiang, Xinzhang Cai, Kun Xia, Zheng Mao Hu, Lu Xia, Yong Feng, Yu Peng, Ying Li
المصدر: Journal of human genetics. 62(2)
مصطلحات موضوعية: 0301 basic medicine, Hearing loss, Hearing Loss, Sensorineural, Locus (genetics), Biology, Frameshift mutation, 03 medical and health sciences, symbols.namesake, Asian People, otorhinolaryngologic diseases, Genetics, medicine, Humans, Exome, Chinese family, Frameshift Mutation, Gene, Genetics (clinical), Exome sequencing, Sanger sequencing, Homeodomain Proteins, Base Sequence, Causative gene, Sequence Analysis, DNA, Pedigree, Transcription Factor Brn-3C, 030104 developmental biology, symbols, medicine.symptom
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المؤلفون: Ping Li, Yantao Ding, Xuejun Zhang, Jinping Gao, Liangdan Sun, Min Li, Kun Xia, You-Wen Zhou, Xin Zhang, Bo Liang, Jian Wang, Pan Li, Yuan Liu, Yingrui Li, Wen Wang, Xiaodong Zheng, Ming Zeng, Ke Yang, Pei-Guang Wang, Jianjun Liu, Tingting He, Jun Zhu, Sheng-Quan Zhang, Bi-Rong Guo, Hui Li, Gang Chen, Fusheng Zhou, Jingchu Hu, Jun-Sheng Hou, Guangqing Sun, Hui Cheng, Xing Fan, Xin Hu, Xianyong Yin, Yujun Sheng, Huanming Yang, Feng-Li Xiao, Xiang-Feng Yuan, Sen Yang, Shi-Xiang Zhao, Wei-Dong Du, Yu-Juan Zhai, Tao Jiang, Zhen-Ying Wang, Jun Wang, Zhong-Yi Yu, Zheng-Mao Hu, Li Zhang, Songke Shen, Wei-Wei Ha, Huayang Tang, Wen Ju Wang, Hui-Feng Zhang, Yong Cui, Bao-Yu Wu, Yu Xu, Xianfa Tang, Jian-Bo Wang, Yang Li, Yunqing Ren, Jing Wang, Shengcai Wei, Min Gao, Fang-Fang Qian, Jie Wang, Xianbo Zuo, Shengxiu Liu
المصدر: Nature Genetics. 44:1156-1160
مصطلحات موضوعية: Keratinocytes, Male, Candidate gene, DNA Mutational Analysis, Apoptosis, Disseminated superficial actinic porokeratosis, symbols.namesake, Genetics, medicine, Humans, Point Mutation, Exome, 1000 Genomes Project, Cells, Cultured, Genetic Association Studies, Exome sequencing, Cell Proliferation, Sanger sequencing, biology, Point mutation, Mevalonate kinase, Cell Differentiation, medicine.disease, Pedigree, Porokeratosis, Phosphotransferases (Alcohol Group Acceptor), Case-Control Studies, symbols, biology.protein, Female, RNA Splice Sites