日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

Enhanced accuracy and sensitivity in detecting FMR1 CGG repeats: a multicenter evaluation of a novel PCR-capillary electrophoresis assay

提高FMR1 CGG重复序列检测的准确性和灵敏度：一项新型PCR-毛细管电泳检测方法的多中心评估

期刊:World Journal of Pediatrics
影响因子:4.5
doi:10.1007/s12519-025-00977-5
Shou, Xin-Yi; Zhu, Zhi-Wei; Jin, Hua; Hu, Ji-Hong; Yan, Ti-Zhen; Zhong, Qing-Yan; Li, Wen-Hao; Mao, Jian-Hua; Dong, Min-Yue; Xu, Qiong; Ni, Shao-Qing
发表日期：2025
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Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls

对中国脊髓性肌萎缩症患者和无关健康对照组的SMN1、SMN2和NAIP基因进行分子特征分析及拷贝数检测

期刊:BMC Musculoskeletal Disorders
影响因子:2.4
doi:10.1186/s12891-015-0457-x
Fang, Ping; Li, Liang; Zeng, Jian; Zhou, Wan-Jun; Wu, Wei-Qing; Zhong, Ze-Yan; Yan, Ti-Zhen; Xie, Jian-Sheng; Huang, Jing; Lin, Li; Zhao, Ying; Xu, Xiang-Min
AIP
神经科学
SMN1
SMN
肌萎缩症
发表日期：2015
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Evidence of recent natural selection on the Southeast Asian deletion (--(SEA)) causing α-thalassemia in South China

近期自然选择对导致华南地区α-地中海贫血的东南亚缺失（--(SEA)）的证据

期刊:BMC Evolutionary Biology
影响因子:
doi:10.1186/1471-2148-13-63
Qiu, Qin-Wei; Wu, Dong-Dong; Yu, Li-Hua; Yan, Ti-Zhen; Zhang, Wen; Li, Zhe-Tao; Liu, Yan-Hui; Zhang, Ya-Ping; Xu, Xiang-Min
贫血
代谢
发表日期：2013
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