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Y

Yan Xu

华中科技大学
H指数:24
被引数:2,129

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Genetic Variation Analysis of Essential Tremor: Insights from the China Essential Tremor Alliance Cohort

特发性震颤的遗传变异分析：来自中国特发性震颤联盟队列的见解

Movement Disorders
IF7.6
2025-11-030
PRE
Mingqiang Li MD; Yuwen Zhao MD, PhD; Yuzheng Wang MD; Runcheng He MD; Guohua Zhao MD, PhD; Xuejing Wang MD, PhD; Yanming Xu MD, PhD; Hongmei Cao MD, PhD; Hong Liu MD; Chengjie Mao MD; Heng Wu MD; Wei Di MD; Yuhu Zhang MD, PhD; Puqing Wang MD; Wei Huang MD, PhD; Yan Xu MD, PhD; Oumei Cheng MD, PhD; Guiyun Cui MD, PhD; Zhentao Zhang MD, PhD; Kezhong Zhang MD, PhD; Yiwen Wu MD, PhD; Tao Chen MD, PhD; Nian Xiong MD, PhD; Lifang Lei MD, PhD; Xun Zhou MD; Hongxu Pan PhD; Xiaomei Duan MD; Sheng Zeng MD; Dong Chang MD; Liang Jin MD; Jinchen Li PhD; Qian Xu MD, PhD; Zhenhua Liu MD, PhD; Jifeng Guo MD, PhD; Chunyu Wang MD, PhD; Tao Wang MD, PhD; Chunfeng Liu MD, PhD; Jun Liu MD, PhD; Qiying Sun MD, PhD; Beisha Tang MD; China Essential Tremor Alliance (CETA)
Targeted long-read sequencing facilitates effective carrier screening for complex monogenic diseases including spinal muscular atrophy, α-/β-thalassemia, 21-hydroxylase deficiency, and fragile-X syndrome

靶向长读长测序技术有助于对包括脊髓性肌萎缩症、α-/β-地中海贫血、21-羟化酶缺乏症和脆性X综合征在内的复杂单基因疾病进行有效的携带者筛查。

JOURNAL OF TRANSLATIONAL MEDICINE
IF7.5
2025-03-110
OA
Li, Shuyuan; Hua, Renyi; Han, Xu; Xu, Yan; Li, Ming; Gao, Li; Ma, Ruiyu; Meng, Wanli; Mao, Aiping; Wang, Jian; Wang, Yanlin

研究方向

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Z
Zhuoran Ma
H 指数:25论文数:57被引数:6,366
X
Xuebing Cao
H 指数:26论文数:122被引数:3,032
B
Bin‐Bing S. Zhou
H 指数:24论文数:67被引数:7,185
纠
纠松涛
H 指数:15论文数:46被引数:689
J
Jiyuan Wang
H 指数:19论文数:136被引数:1,244
Y
Yanlin Wang
H 指数:19论文数:59被引数:1,083
陈瑶 封面图
陈瑶
H 指数:32论文数:255被引数:3,899
F
Fan Yang
H 指数:21论文数:62被引数:4,276
张
张才喜
H 指数:22论文数:80被引数:1,619
C
Cailin Wang
H 指数:25论文数:108被引数:2,425