Functional deficient mutation of PRPS1 gene induced X-linked non-syndromic DFN2 hearing impairment韩冰, 李建忠, 程静, 金占国, 李旭, 王幼勤, Maria Bitner-Glindzicz, 孔祥银, 许恒, Albena Kantardzhieva, Roland D Eavey, Christine E Seidman, Jonathan G Seidman, 陈正一, 戴朴, 滕脉坤, Denise Yan, 刘学忠, 袁慧军, 韩东一1-8
Pathological analysis of mitochondrial DNA mutation 961delT/insC(n)in a Chinese family with hereditary hearing loss李建忠, 程静, 卢宇, 孙艺, 康东洋, 张昕, 陈艾婷, 袁慧军, 韩东一9-13
Clinical and genetic features of a large Chinese family with nonsyndromic autosomal dominant hereditary hearing loss朱玉华, 孙艺, 李建忠, 金占国, 程静, 卢宇, 韩冰, 戴朴, 袁慧军, 翟所强14-18
Audiological and vestibular evaluation of a Chinese DFNA9 family孙勍, 马丽涛, 单希征, 许剑, 仇春燕, 陈艾婷, 冀飞, 康东洋, 张昕, 袁慧军19-21
Mutation screening of PAX3 gene and genetic counseling for a family with Waardenburg syndrome type I卢宇, 程静, 朱庆文, 袁慧军22-25
Epidemiological spot check on Chinese deaf-and-dumb population about Waardenburg syndrome杨淑芝, 孙勍, 刘新, 袁永一, 朱庆文, 戴朴, 袁慧军, 杨伟炎26-28
Analysis of phenotype and genotype of a large Chinese family with autosomal dominant hereditary nonsyndromic hearing loss李建忠, 程静, 卢宇, 孙艺, 康东洋, 张昕, 陈艾婷, 袁慧军, 韩东一29-34
Association of CDH23 gene's SNP with susceptibility to pulse noise induced hearing loss郭晓民, 薛希均, 戴朴, 张金淑, 王国建, 康东洋, 陈良飞, 杨晓东, 陈克久35-39
1555~G mutation detect for the mitochondrial DNA in a pedigree with maternally inherited hearing loss and sporadic non-syndromic deafness赵芳, 张芩娜40-45
Genetic and audiological characteristics of a Chinese family with autosamal dominant hereditary non-syndromic hearing loss孙艺, 陈静, 朱玉华, 程静, 李建忠, 卢宇, 冀飞, 王荣光, 袁慧军46-50