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Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal r
[会议论文] 作者：,Tang Ning,Li Wugao,Li Zhetao,Luo Shiqiang,Li Jingwen,Cai Ren,Tang Xiangrong,Yang Yan,Wang Lin,Zeng Dingyuan,
来源：第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份：2016
Background The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods....
Identification and Clinical Implications of Novel MY015A Mutations in a Non-consanguineous Chinese F
[会议论文] 作者：Tizhen,Li Zhetao,Li Wugao,Tang Ning,Li Jingwen,Cai Ren,Tang Xiangrong,Yang Yan,Zheng Pei,Wang Lin,Zeng Dingyuan,
来源：第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份：2016
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing l...
Identification and Clinical Implications of Novel MY015A Mutations in a Non-consanguineous Chinese F
[会议论文] 作者：Tizhen,Tang Xiangrong,Li Zhetao,Li Wugao,Tang Ning,Wang Lin,Yang Yan,Li Jingwen,Zheng Pei,Cai Ren,Zeng Dingyuan,
来源：第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份：2016
Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestat...
Targeted genomic capture and massively parallel sequencing of a Chinese family with non-syndromic lo
[会议论文] 作者：Yan Tizhen,Tang Xiangrong,Zeng Dingyuan,Li Wugao,Li Zhetao,Luo Shiqiang,Yang Yan,Li Jingwen,Wang Lin,,
来源：第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份：2016
Background Wolfram syndrome gene 1 (WFS1) accounts for most of the familial non-syndromic low-frequency sensorineural hearing loss (LFSNHL) which is characterized by an unusual type of hearing loss in...
Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal r
[会议论文] 作者：Yan Tizhen,Tang Ning,Li Wugao,Li Zhetao,Tang Xiangrong,Luo Shiqiang,Yang Yan,Li Jingwen,Wang Lin,Zeng Dingyuan,
来源：第十五次中国中西医结合耳鼻咽喉科专业委员会年会 年份：2016
Background The genetic heterogeneity of hearing loss makes genetic diagnosis expensive and time consuming using available methods....
[会议论文] 作者：Yan Tizhen,Tan Jian-qiang,Tang Ning,Cai Ren,Zeng Dingyuan,Luo Shi-qiang,Ya Jiaolian,Pan Lizhen,Li Wugao,
来源：第十四次全国医学遗传学学术会议 年份：2015
Background: The human X chromosome carries regions prone to genomic instability:the Xq27.3 unstable region, containing the (CGG) n repeat expansion in the FMR1 gene is associated with fragile X syndro...
[会议论文] 作者：Tizhen,Tang Ning,Li Zhetao,Li Wugao,Tang Xiangrong,Wang Lin,Yang Yan,Huang Jiwei,Zheng Pei,Cai Ren,Zeng Dingyuan,
来源：中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份：2016
...
Whole-exome sequencing identifies two novel MARVELD2 frame-shift mutations as a cause of autosomal r
[会议论文] 作者：Cai Ren,Tang Ning,Li Wugao,Li Zhetao,Tang Xiangrong,Luo Shiqiang,Yang Yan,Li Ji ngwen,Wang Lin,Zeng Dingyuan,
来源：中华医学会第十五次全国医学遗传学学术会议、中国医师协会医学遗传医师分会第一届全国学术会议暨2016年浙江省医学遗传学年会 年份：2016
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