Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 8 (of 8 Records) |
Query Trace: Enlarged Vestibular Aqueduct Syndrome[original query] |
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[The roles of connexin genes in sporadic hearing loss population]. Zhonghua yi xue za zhi 2007 Apr 87 (16): 1097-101. Li Qing-zhong, Wang Qiu-ju, Chi Fang-lu, Li Li-na, Zhao Ya-li, Yuan Hu, Han Dong- |
[Sequencing of SLC26A4 exons 7 and 8 and hot spot mutation analysis in 1552 moderate to profound sensorineural hearing loss patients in China]. Zhonghua yi xue za zhi 2007 Sep 87 (36): 2521-5. Dai Pu, Yuan Yong-Yi, Kang Dong-Yang, Li Qi, Zhu Qing-Wen, Zhang Xin, Liu Li-Xian, Liu Xin, Huang De-Lia |
[Frequency of SLC26A4 IVS7-2A > G mutation in patients with severe to profound hearing loss from different area and ethnic group in China]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2007 Dec 42 (12): 893-7. Li Qi, Dai Pu, Huang De-liang, Yuan Yong-yi, Zhu Qing-wen, Han Bing, Liu Xin, Yu Fei, Kang Dong-yang, Zhang Xin, Xue Dan-dan, Jin Zheng- |
[Sequencing analysis of whole SLC26A4 gene related to IVS7-2A > G mutation in 1552 moderate to profound sensorineural hearing loss patients in China]. Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2009 Jun 44 (6): 449-54. Yuan Yong-yi, Dai Pu, Zhu Qing-wen, Kang Dong-yang, Huang De-lia |
[Diagnostic function of SLC26A4 hot spot mutations screening to enlarged vestibular aqueduct syndrome]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2010 Oct 24 (19): 876-9. Li Qi, Fang Ruping, You Yiwen, Wang Yong, Dai |
Correlation analysis of genotypes, auditory function, and vestibular size in Chinese children with enlarged vestibular aqueduct syndrome. Acta oto-laryngologica 2013 Dec 133 (12): 1242-9. Zhao Fei-Fan, Lan Lan, Wang Da-Yong, Han Bing, Qi Yue, Zhao Yali, Zong Liang, Li Qian, Wang Qiu- |
[Identification of a novel mutation of SLC26A4 gene with enlarged vestibular aqueduct syndrome]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2018 6 31 (9): 694-696. Chen J, Shi L S, Zhou H, Zhu G J, Ma D B, Li J Y, Gao |
[An analysis of the mutation in GJB2?GJB3?SLC26A4 and mtDNA12SrRNA in new born]. Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology, head, and neck surgery 2017 May 31 (9): 664-666. Chai F, Zhao H L, Qiu S |
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