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A novel insertion mutation in the ATP7A gene associated with delayed infantile onset of Menkes disea
[会议论文] 作者：Li Wugao,Yan Tizhen,Tang Ning,Li Zhetao,Huang Jiwei,Tan Jianqiang,Pan Lizhen,Cai Ren,
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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[会议论文] 作者：Yan Tizhen,Tang Ning,Luo Shiqiang,Huang Jiwei,Tan Jianqiang,Li Zhetao,Li Wugao,Wang Yuanliu,Cai Ren,
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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6p22.3 deletion: report of a boy with severe intellectual disability, autism, and electroencephalogr
[会议论文] 作者：Yan Tizhen,Zeng Ting,Wei Xiao-nin,Ding Yan-ling,Li Wugao,Li Zhetao,Weo Shuo-feng,Luo Shi-qiang,Cai Ren,
来源：第十四次全国医学遗传学学术会议 年份：2015
The interstitial deletions involving the 6p22-p24 chromosomal region are characterized by variable phenotype, according to the different size of the deleted regions and the small amount of patients re...
[会议论文] 作者：Huang Ji-wei,Tan Jian-qiang,Li Wugao,Li Zhe-tao,Yan Ti-zhen,Cai Ren,Pan Li-zhen,Luo Shi-qiang,Li Jing-wen,
来源：第十四次全国医学遗传学学术会议 年份：2015
Objective: To genetic analysis the CYP21A2 of seven patients with congenital adrenal hyperplasia and their parents.Methods: Seven patients with congenital adrenal hyperplasia from six families were co...
[会议论文] 作者：Yan Tizhen,Li Wugao,Tang Xiangrong,Li Zhetao,Wang Lin,Mo Lian,Huang Jiwei,Yang Yan,Cai Ren,Tang Ning,
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：Yan Tizhen,Tang Ning,Li Wugao,Li Zhetao,Luo Shiqiang,Li Jingwen,Cai Ren,Tang Xiangrong,Yang Yan,Wang,
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：Yan Tizhen,Li Zhetao,Li Wugao,Tang Ning,Li Jingwen,Cai Ren,Tang Xiangrong,Yang Yan,Zheng Pei,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
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：Yan Tizhen,Tang Xiangrong,Li Zhetao,Li Wugao,Tang Ning,Wang Lin,Yang Yan,Li Jingwen,Zheng Pei,Cai Ren,
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,
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...
Detection of rare alpha-thalassemia by using multiplex ligation-dependent probe amplification in sou
[会议论文] 作者：Cai Ren,Tang Ning,Huang Jiwei,Yan Tizhen,Luo Shiqiang,Li Wugao,Li Zhetao,Huang Jun,Li Jingwen,Zhong qingyan,
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
...
[会议论文] 作者：Yan Tizhen,Tang Ning,Li Zhetao,Li Wugao,Tang Xiangrong,Wang Lin,Yang Yan,Huang Jiwei,Zheng Pei,Cai Ren,
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：Yan Tizhen,Cai Ren,Tang Ning,Li Wugao,Li Zhetao,Tang Xiangrong,Luo Shiqiang,Yang Yan,Li Ji ngwen,Wang,
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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