5 个大前庭水管综合征家系SLC26A4 基因的检测分析
朱发梅， 郑家法， 谢鼎华， 胡鹏 - 山东大学学报(医学版), 2014 - yxbwk.njournal.sdu.edu.cn
… mutations in 5 families associated with enlarge vestibular aqueduct syndrome(EVAS). Methods
5 … mutations of SLC26A4, in accordance with autosomal recessive genetic mechanisms. …
5 … mutations of SLC26A4, in accordance with autosomal recessive genetic mechanisms. …
南京地区耳聋患者常见耳聋基因突变的分析
徐丽娜， 高艳慧， 何双八 - 山东大学耳鼻喉眼学报, 2019 - ebhyxbwk.njournal.sdu.edu.cn
… Moreover, we aimed to clarify the genetic etiology of deafness in patients with severe to …
vestibular aqueduct syndrome, and mutation in this gene is useful to diagnose the syndrome. …
vestibular aqueduct syndrome, and mutation in this gene is useful to diagnose the syndrome. …
[HTML][HTML] SLC26A4 基因在大前庭水管综合征和/或Mondini 畸形患儿中突变频率的观察
刘亚青， 黄正华， 孙晨， 沈小飞， 李伟… - Journal of Clinical …, 2021 - ncbi.nlm.nih.gov
… vestibular aqueduct syndrome(EVAS… genetic diagnosis of patients with EVAS and/or MD
helps to provide accurate information about the genetic causes of hearing loss, provide genetic …
helps to provide accurate information about the genetic causes of hearing loss, provide genetic …
高通量基因捕获测序技术在12 个耳聋家庭中的应用
孙菲菲， 胡松群， 唐艳， 张洁， 吴笛… - 山东大学耳鼻 …, 2017 - ebhyxbwk.njournal.sdu.edu.cn
… and genetic etiology of non-syndromic deafness in twelve … (NGS)for deafness-related genes
was used to identify the mutation … that the targeted NGS technique is an efficient genetic test. …
was used to identify the mutation … that the targeted NGS technique is an efficient genetic test. …
[HTML][HTML] 59 例大前庭导水管综合征SLC26A4 基因突变频率及新发突变位点分析
苏栋， 娄凡， 黄锐， 李霞， 林垦， 李果… - Journal of Clinical …, 2023 - ncbi.nlm.nih.gov
… combined with genetic testing found that a part of children with enlarged vestibular
aqueduct … 除导致SNHL外，其与大前庭水管综合征(enlarged vestibular aqueduct syndrome，EVAS)、…
aqueduct … 除导致SNHL外，其与大前庭水管综合征(enlarged vestibular aqueduct syndrome，EVAS)、…
人工耳蜗植入聋儿术前基因检测及家系分析
张初琴， 陈波蓓， 黄加云， 孙冬梅， 陈迎迎， 项松洁… - 遗传, 2008 - chinagene.cn
… In the present study, the clinical, genetic and molecular analysis of 14 cochlear … Genetic
testing of PDS gene-alternative diagnostic method for dilated vestibular aqueduct syndrome. …
testing of PDS gene-alternative diagnostic method for dilated vestibular aqueduct syndrome. …
人工耳蜗植入术治疗大前庭水管综合征16 例临床分析
孙凯丽， 吴晓媛， 别旭， 孙秀珍 - 山东大学耳鼻喉眼 …, 2019 - ebhyxbwk.njournal.sdu.edu.cn
… of LVAS currently include genetic screening for prenatal and … vestibular aqueduct
syndrome;Audiology;Cochlear implantation 大前庭水管综合征(large vestibular aqueduct syndrome,…
syndrome;Audiology;Cochlear implantation 大前庭水管综合征(large vestibular aqueduct syndrome,…
[PDF][PDF] 新生儿GJB2, GJB3, SLC26A4 和线粒体DNA12SrRNA 基因突变筛查结果分析
柴福， 赵海亮， 邱书奇 - J Clin Otorhinolaryngol Head Neck Surg …, 2017 - lceh.whuhzzs.com
… was diagnosed enlarged vestibular aqueduct syndrome.The … This genetic epidemiological
study demonstrated that genetic … member can acquire more effective genetic counseling. …
study demonstrated that genetic … member can acquire more effective genetic counseling. …