位置：成果数据库 > 期刊 > 期刊详情页
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human
  • ISSN号：0002-9297
  • 期刊名称：American Journal of Human Genetics
  • 时间：2011.7.15
  • 页码：56-66
  • 相关项目：新致聋基因的鉴定及其致聋机制研究
作者： 袁慧军|
同期刊论文项目
新致聋基因的鉴定及其致聋机制研究
期刊论文 25
同项目期刊论文
进行性非综合征型聋家系临床表型及遗传学分析
Treacher Collins综合征患者临床表型特征及TCOF1基因突变分析
一个常染色体显性遗传非综合征性聋家系分析
Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber s
Van der Hoeve综合征家系临床表型特征及COL1A1基因突变分析
A novel missense SNRNP200 mutation associated with autosomal dominant retinitis pigmentosa in a Chin
新一代测序技术及其在遗传性聋基因研究中的应用
Hearing loss and PRPS1 mutations: Wide spectrum of phenotypes and potential therapy
Mutation of the ATP-gated P2X(2) receptor leads to progressive hearing loss and increased susceptibi
新一代测序技术在遗传性耳聋基因研究及诊断中的应用
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance c
TECTA基因突变与常染色体显性遗传非综合征型DFNA8/12型聋的研究进展
Identification of a Novel TECTA mutation in a Chinese DFNA8/12 family with prelingual progressi
Genetic and phenotypic heterogeneity in Chinese patients with Waardenburg syndrome type II.
Identification of a Novel TECTA Mutation in a Chinese DFNA8/12 Family with Prelingual Progressive Se
Exome Sequencing Identifies a Novel Frameshift Mutation of MYO6 as the Cause of Autosomal Domin
先天性非进展性常染色体显性遗传非综合症型耳聋家系临床表型特征分析
Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss
常染色体显性遗传性聋家系遗传学特征及外显子组测序分析
Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss