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Research Interests

Papers共 19 篇Author StatisticsCo-AuthorSimilar Experts

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[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene]
Xin Zhang,Shiyan Qiu,Li Yang,Yufen Li,Na Xu, Xixi Yu
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsno. 2 (2024): 174-180
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[Clinical and genetic analysis of a patient with Baraitser-Winter syndrome due to variant of ACTG1 gene]
Shiyan Qiu, Xiaoling Li,Ying Hua,Shaoxia Sun
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsno. 5 (2024): 571-576
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[Analysis of a child with SPONASTRIME dysplasia due to compound heterozygous variants of TONSL gene]
Liping Zhu, Yuzeng Han,Shiyan Qiu,Na Xu,Xin Zhang,Yufen Li,Li Yang
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsno. 5 (2024): 577-580
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[Genetic analysis of a family with epilepsy accompanied by developmental delay and brain deformity due to a de novo variant of TUBB2A gene]
Juan Zhao,Na Xu,Yufen Li,Li Yang,Shiyan Qiu,Liping Zhu,Xuemei Sun
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsno. 2 (2024): 187-192
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过度惊吓反应症1例临床及遗传学分析
孙敏, 张新,徐那, 杨莉,邱世彦,李玉芬,徐丽云
Chinese Journal of Neurologyno. 7 (2023)
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新发 ATP7B基因复合杂合变异所致肝豆状核变性1例
华英,孙绍霞, 李玉芬, 徐丽云,宋纪国,张丕强, 王均林,邱世彦
Chinese Journal of Medical Geneticsno. 8 (2023)
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伴SCN1A基因突变Dravet综合征的临床电生理特点
孙学梅,徐丽云,徐那,邱世彦,杨莉,李玉芬
Acta Aacademiae Medicinae Qingdao Universitatispp.527-531, (2021)
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