應用次世代定序技術建立聽損基因檢測平台
YH Lin - 臺灣大學分子醫學研究所學位論文, 2018 - airitilibrary.com
… common genetic cause of sensorineural hearing impairment (… (Val84Ile); two patients had
autosomal recessive variants on … For the 12 patients with one recessive SLC26A4 variant, we …
autosomal recessive variants on … For the 12 patients with one recessive SLC26A4 variant, we …
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
… Hearing loss in the 6 patients of the 5 families is all caused by different biallelic mutations of
SLC26A4, in accordance with autosomal … SLC26A4 gene mutation in nonsyndromic hearing …
SLC26A4, in accordance with autosomal … SLC26A4 gene mutation in nonsyndromic hearing …
[HTML][HTML] Usher1C 新发突变致先天性感音神经性聋1 例并文献复习
郭敏, 韩炜伟, 李书聆 - Journal of Clinical Otorhinolaryngology …, 2020 - ncbi.nlm.nih.gov
… features and causes of congenital Usher hearing loss in one … , Usher syndrome or non-syndromic
deafness DFNB18 can … 我国常见的非综合征性聋的基因有GJB2、GJB3S、SLC26A4及…
deafness DFNB18 can … 我国常见的非综合征性聋的基因有GJB2、GJB3S、SLC26A4及…
應用次世代定序技術進行遺傳性聽力缺損之基因診斷
YH Lin - 臺灣大學基因體暨蛋白體醫學研究所學位論文, 2018 - airitilibrary.com
… have a genetic cause (ie hereditary hearing impairment; HHI). … SLC26A4 pathogenic
variants (including a large SLC26A4 … only one variant causing autosomal recessive SNHI in the …
variants (including a large SLC26A4 … only one variant causing autosomal recessive SNHI in the …
新一代测序技术在先天性感音神经性聋中的应用研究
徐彬, 陈扬, 蒋艾, 陈操, 王凯, 郑静… - 临床耳鼻咽喉头颈外科 …, 2018 - lceh.whuhzzs.com
… hearing loss, 8 had moderate hearing loss, and 3 had mild … There are 5 cases of SLC26A4
gene mutations, including 2 … associated with autosomalrecessive nonsyndromic hearing loss[J…
gene mutations, including 2 … associated with autosomalrecessive nonsyndromic hearing loss[J…
河南省100 例非综合征型聋患者聋基因突变分析
杨爱利, 耿曼英, 张慧, 郭小艳, 汤建芬… - 临床耳鼻咽喉头颈外科 …, 2015 - lceh.whuhzzs.com
… in GJB2, followed by SLC26A4,and it will provide a theoretical basis to … A novel mutation
in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss[J].…
in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss[J].…
福州地区88 例听力障碍者致聋基因测序结果分析
林文津, 郭舜民, 徐小妹, 徐榕青, 张亚敏 - 中国耳鼻咽喉头颈外科, 2016 - entbjb.com
… and three cases had SLC26A4 mutations, two cases had MYO15A mutations… novel mutation
in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.…
in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.…
GJB2 基因突变引起的显性遗传非综合征型耳聋家系研究
戴翔, 李隽, 胡晞江, 童静, 蔡文倩 - 临床耳鼻咽喉头颈外科杂志, 2016 - lceh.whuhzzs.com
… The mutations in GJB2, GJB3, GJB6, SLC26A4 genes, … family with autosomal dominant
nonsyndromic hearing loss.Method: … , SLC26A4 genes, 12SrRNA and tRNASer(UCN) mutations …
nonsyndromic hearing loss.Method: … , SLC26A4 genes, 12SrRNA and tRNASer(UCN) mutations …
中国人非综合征型学语前聋患者Taperin 基因突变筛查研究
汪芹, 聂智樱, 丁艳, 卿洁, 赖若沙… - 临床耳鼻咽喉头颈外科 …, 2014 - lceh.whuhzzs.com
… 未携带或仅带有单个杂合GJB2或SLC26A4突变的患者应用PCR-DNA测序法对… novel Taperin
mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss…
mutation, A187S was detected in Chinese patients with prelingual nonsyndromic hearing loss…