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收藏Single Administration of AAV-mAtp6v1b2 Gene Therapy Rescues Hearing and Vestibular Disorders Caused by Atp6v1b2-Induced Lysosomal Dysfunction in Hair Cells单次AAV-mAtp6v1b2基因治疗可挽救由毛细胞中Atp6v1b2诱导的溶酶体功能障碍引起的听力和前庭功能障碍。
Wei, GG; Qiu, SW; Gao, X; Zheng, L; Chen, YJ; Ma, Y; Feng, HF; Yang, JY; Dong, GJ; Nie, HY; Zhao, WH; Li, XG; Wang, GQ; Xiong, W; Dai, P; Yuan, YY
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收藏Genomic and phenotypic landscapes of X-linked hereditary hearing loss in the Chinese population中国人群X连锁遗传性听力损失的基因组和表型景观
Feng, Haifeng; Huang, Shasha; Ma, Ying; Yang, Jinyuan; Chen, Yijin; Wang, Guojian; Han, Mingyu; Kang, Dongyang; Zhang, Xin; Dai, Pu; Yuan, Yongyi
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收藏Characterization of SH3GLB1 in the auditory system and its potential role in mitophagy
Gao, Xue; Wang, Weiqian; Xu, Jincao; Huang, Shasha; Yang, Kun; Yang, Jinyuan; Chen, Yijin; Wang, Guojian; Han, Mingyu; Wang, Zhendong; Kang, Dongyang; Yuan, Yongyi; Dai, Pu
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收藏Exploration of a Novel Noninvasive Prenatal Testing Approach for Monogenic Disorders Based on Fetal Nucleated Red Blood Cells
Li, Xiaoge; Zhang, Dejun; Zhao, Xing; Huang, Shasha; Han, Mingyu; Wang, Guojian; Li, Yingzhuo; Kang, Dongyang; Zhang, Xin; Dai, Pu; Yuan, Yongyi
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收藏A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I
Yang, Shu-Zhi; Hou, Lei; Qi, Xin; Wang, Guo-Jian; Huang, Sha-Sha; Zhang, Shan-Shan; Huang, Bang-Qing; Yang, Ying; Li, Bei-Cheng; Liu, Shuo; Dai, Pu; Su, Yu
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收藏Preimplantation genetic testing for hereditary hearing loss in Chinese population (Apr, 10.1007/s10815-023-02753-8, 2023)
Bi, Qingling; Huang, Shasha; Wang, Hui; Gao, Xue; Ma, Minyue; Han, Mingyu; Lu, Sijia; Kang, Dongyang; Nourbakhsh, Aida; Yan, Denise; Blanton, Susan; Liu, Xuezhong; Yuan, Yongyi; Yao, Yuanqing; Dai, Pu
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收藏Preimplantation genetic testing for hereditary hearing loss in Chinese population
Bi, Qingling; Huang, Shasha; Wang, Hui; Gao, Xue; Ma, Minyue; Han, Mingyu; Lu, Sijia; Kang, Dongyang; Nourbakhsh, Aida; Yan, Denise; Blanton, Susan; Liu, Xuezhong; Yuan, Yongyi; Yao, Yuanqing; Dai, Pu
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收藏Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome
Li, Xiaohong; Huang, Shasha; Wang, Guojian; Kang, Dongyang; Han, Mingyu; Wu, Xiedong; Yang, Jinyuan; Zheng, Qiuchen; Zhao, Chaoyue; Yuan, Yongyi; Dai, Pu
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收藏The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter studyOTOF相关听神经病谱系障碍的自然史: 一项多中心研究
Thorpe, Ryan K.; Azaiez, Hela; Wu, Peina; Wang, Qiuju; Xu, Lei; Dai, Pu; Yang, Tao; Schaefer, G. Bradley; Peters, B. Robert; Chan, Kenny H.; Schatz, Krista S.; Bodurtha, Joann; Robin, Nathaniel H.; Hirsch, Yoel; Rahbeeni, Zuhair Abdalla; Yuan, Huijun; Smith, Richard J. H.
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收藏Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome
Wang, Guojian; Li, Xiaohong; Gao, Xue; Su, Yu; Han, Mingyu; Gao, Bo; Guo, Chang; Kang, Dongyang; Huang, Shasha; Yuan, Yongyi; Dai, Pu
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收藏Unilateral Cochlear Implants for Severe, Profound, or Moderate Sloping to Profound Bilateral Sensorineural Hearing Loss A Systematic Review and Consensus Statements
Buchman, Craig A.; Gifford, Rene H.; Haynes, David S.; Lenarz, Thomas; O'Donoghue, Gerard; Adunka, Oliver; Biever, Allison; Briggs, Robert J.; Carlson, Matthew L.; Dai, Pu; Driscoll, Colin L.; Francis, Howard W.; Gantz, Bruce J.; Gurgel, Richard K.; Hansen, Marlan R.; Holcomb, Meredith; Karltorp, Eva; Kirtane, Milind; Larky, Jannine; Mylanus, Emmanuel A. M.; Roland, J. Thomas, Jr.; Saeed, Shakeel R.; Skarzynski, Henryk; Skarzynski, Piotr H.; Syms, Mark; Teagle, Holly; Van de Heyning, Paul H.; Vincent, Christophe; Wu, Hao; Yamasoba, Tatsuya; Zwolan, Terry
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收藏Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation
Guo, Chang; Huang, Sha-Sha; Yuan, Yong-Yi; Zhou, Ying; Wang, Ning; Kang, Dong-Yang; Yang, Su-Yan; Zhang, Xin; Gao, Xue; Dai, Pu
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收藏Congenital sensorineural hearing loss as the initial presentation of PTPN11-associated Noonan syndrome with multiple lentigines or Noonan syndrome: clinical features and underlying mechanisms
Gao, Xue; Huang, Sha-Sha; Qiu, Shi-Wei; Su, Yu; Wang, Wei-Qian; Xu, Hui-Yan; Xu, Jin-Cao; Kang, Dong-Yang; Dai, Pu; Yuan, Yong-Yi
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