Results
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Targeted Next-Generation Sequencing Revealed Novel Mutations in Chinese Ataxia Telangiectasia Patients: A Precision Medicine Perspective. [electronic resource] by
- Chen, Zhao
- Ye, Wei
- Long, Zhe
- Ding, Dongxue
- Peng, Huirong
- Hou, Xuan
- Qiu, Rong
- Xia, Kun
- Tang, Beisha
- Jiang, Hong
Producer: 20160602
In:
PloS one vol. 10
Availability: No items available.
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Identification of a de novo DYNC1H1 mutation via WES according to published guidelines. [electronic resource] by
- Ding, Dongxue
- Chen, Zhao
- Li, Kai
- Long, Zhe
- Ye, Wei
- Tang, Zhaoli
- Xia, Kun
- Qiu, Rong
- Tang, Beisha
- Jiang, Hong
Producer: 20170110
In:
Scientific reports vol. 6
Availability: No items available.
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10.
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ATXN2 polymorphism modulates age at onset in Machado-Joseph disease. [electronic resource] by
- Ding, Dongxue
- Li, Kai
- Wang, Chunrong
- Chen, Zhao
- Long, Zhe
- Peng, Yun
- Zhou, Xin
- Peng, Huirong
- Qiu, Rong
- Xia, Kun
- Tang, Beisha
- Jiang, Hong
Producer: 20180814
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
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11.
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Two novel SNPs in ATXN3 3' UTR may decrease age at onset of SCA3/MJD in Chinese patients. [electronic resource] by
- Long, Zhe
- Chen, Zhao
- Wang, Chunrong
- Huang, Fengzhen
- Peng, Huirong
- Hou, Xuan
- Ding, Dongxue
- Ye, Wei
- Wang, Junling
- Pan, Qian
- Li, Jiada
- Xia, Kun
- Tang, Beisha
- Ashizawa, Tetsuo
- Jiang, Hong
Producer: 20160112
In:
PloS one vol. 10
Availability: No items available.
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12.
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Polymorphisms in DNA methylation-related genes are linked to the phenotype of Machado-Joseph disease. [electronic resource] by
- Ding, Dongxue
- Wang, Chunrong
- Chen, Zhao
- Peng, Huirong
- Li, Kai
- Zhou, Xin
- Peng, Yun
- Wang, Puzhi
- Hou, Xiaocan
- Li, Tianjiao
- Qiu, Rong
- Xia, Kun
- Sequeiros, Jorge
- Ashizawa, Tetsuo
- Tang, Beisha
- Jiang, Hong
Producer: 20190711
In:
Neurobiology of aging vol. 75
Availability: No items available.
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Rare GCH1 heterozygous variants contributing to Parkinson's disease. [electronic resource] by
- Xu, Qian
- Li, Kai
- Sun, Qiying
- Ding, Dongxue
- Zhao, Yuwen
- Yang, Nannan
- Luo, Yang
- Liu, Zhenhua
- Zhang, Yuan
- Wang, Chunrong
- Xia, Kun
- Yan, Xinxiang
- Jiang, Hong
- Shen, Lu
- Tang, Beisha
- Guo, Jifeng
Producer: 20190523
In:
Brain : a journal of neurology vol. 140
Availability: No items available.
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14.
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Alteration of methylation status in the ATXN3 gene promoter region is linked to the SCA3/MJD. [electronic resource] by
- Wang, Chunrong
- Peng, Huirong
- Li, Jiada
- Ding, Dongxue
- Chen, Zhao
- Long, Zhe
- Peng, Yun
- Zhou, Xin
- Ye, Wei
- Li, Kai
- Xu, Qian
- Ai, Sanxi
- Song, Chengyuan
- Weng, Ling
- Qiu, Rong
- Xia, Kun
- Tang, Beisha
- Jiang, Hong
Producer: 20171116
In:
Neurobiology of aging vol. 53
Availability: No items available.
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15.
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Novel mutations in ADSL for Adenylosuccinate Lyase Deficiency identified by the combination of Trio-WES and constantly updated guidelines. [electronic resource] by
- Mao, Xiao
- Li, Kai
- Tang, Beisha
- Luo, Yang
- Ding, Dongxue
- Zhao, Yuwen
- Wang, Chunrong
- Zhou, Xiaoting
- Liu, Zhenhua
- Zhang, Yuan
- Wang, Puzhi
- Xu, Qian
- Sun, Qiying
- Xia, Kun
- Yan, Xinxiang
- Jiang, Hong
- Lu, Shen
- Guo, Jifeng
Producer: 20181211
In:
Scientific reports vol. 7
Availability: No items available.
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16.
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Ubiquitin-related network underlain by (CAG)n loci modulate age at onset in Machado-Joseph disease. [electronic resource] by
- Chen, Zhao
- Wang, Chunrong
- Zheng, Caifa
- Long, Zhe
- Cao, Li
- Li, Xunhua
- Shang, Huifang
- Yin, Xinzhen
- Zhang, Baorong
- Liu, Jingyu
- Ding, Dongxue
- Peng, Yun
- Peng, Huirong
- Ye, Wei
- Qiu, Rong
- Pan, Qian
- Xia, Kun
- Chen, Shengdi
- Sequeiros, Jorge
- Ashizawa, Tetsuo
- Tang, Beisha
- Jiang, Hong
Producer: 20190125
In:
Brain : a journal of neurology vol. 140
Availability: No items available.
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17.
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(CAG)n loci as genetic modifiers of age-at-onset in patients with Machado-Joseph disease from mainland China. [electronic resource] by
- Chen, Zhao
- Zheng, Caifa
- Long, Zhe
- Cao, Li
- Li, Xunhua
- Shang, Huifang
- Yin, Xinzhen
- Zhang, Baorong
- Liu, Jingyu
- Ding, Dongxue
- Peng, Yun
- Wang, Chunrong
- Peng, Huirong
- Ye, Wei
- Qiu, Rong
- Pan, Qian
- Xia, Kun
- Chen, Shengdi
- Sequeiros, Jorge
- Ashizawa, Tetsuo
- Klockgether, Thomas
- Tang, Beisha
- Jiang, Hong
Producer: 20180131
In:
Brain : a journal of neurology vol. 139
Availability: No items available.
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