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American Journal of Medical Genetics. Part A
|
September 10, 2005
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
Huijun Yuan, Yaping Qian, Yanjun Xu, et al.
Journal of Human Genetics
|
December 15, 2010
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China
Yi Sun, Jing Chen, Hanjun Sun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2008
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss
Pu Dai, Qi Li, Deliang Huang, et al.
American Journal of Human Genetics
|
July 5, 2011
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64
Jing Cheng, Yuhua Zhu, Sudan He, et al.
Mitochondrion
|
July 22, 2008
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss
Jing Chen, Huijun Yuan, Jianxin Lu, et al.
Biochemical and Biophysical Research Communications
|
December 27, 2005
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness
Pu Dai, Xin Liu, Dongyi Han, et al.
Cell Research
|
June 11, 2014
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome
Yongyi Yuan, Jianguo Zhang, Qing Chang, et al.
Physiological Genomics
|
June 11, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss
Pu Dai, Andrew K Stewart, Fouad Chebib, et al.
American Journal of Human Genetics
|
December 22, 2009
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
Xuezhong Liu, Dongyi Han, Jianzhong Li, et al.
American Journal of Human Genetics
|
January 29, 2013
Genetic basis of Y-linked hearing impairment
Qiuju Wang, Yali Xue, Yujun Zhang, et al.
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of 15
Search research articles
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Showing results (131-140 of 141) with videos related to
Sort By:
Page
of 15
American Journal of Medical Genetics. Part A
|
September 10, 2005
Cosegregation of the G7444A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes with the 12S rRNA A1555G mutation in a Chinese family with aminoglycoside-induced and nonsyndromic hearing loss
Huijun Yuan, Yaping Qian, Yanjun Xu, et al.
Journal of Human Genetics
|
December 15, 2010
Novel missense mutations in MYO7A underlying postlingual high- or low-frequency non-syndromic hearing impairment in two large families from China
Yi Sun, Jing Chen, Hanjun Sun, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
July 22, 2008
SLC26A4 c.919-2A>G varies among Chinese ethnic groups as a cause of hearing loss
Pu Dai, Qi Li, Deliang Huang, et al.
American Journal of Human Genetics
|
July 5, 2011
Functional mutation of SMAC/DIABLO, encoding a mitochondrial proapoptotic protein, causes human progressive hearing loss DFNA64
Jing Cheng, Yuhua Zhu, Sudan He, et al.
Mitochondrion
|
July 22, 2008
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss
Jing Chen, Huijun Yuan, Jianxin Lu, et al.
Biochemical and Biophysical Research Communications
|
December 27, 2005
Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: implication for early detection and prevention of deafness
Pu Dai, Xin Liu, Dongyi Han, et al.
Cell Research
|
June 11, 2014
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome
Yongyi Yuan, Jianguo Zhang, Qing Chang, et al.
Physiological Genomics
|
June 11, 2009
Distinct and novel SLC26A4/Pendrin mutations in Chinese and U.S. patients with nonsyndromic hearing loss
Pu Dai, Andrew K Stewart, Fouad Chebib, et al.
American Journal of Human Genetics
|
December 22, 2009
Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2
Xuezhong Liu, Dongyi Han, Jianzhong Li, et al.
American Journal of Human Genetics
|
January 29, 2013
Genetic basis of Y-linked hearing impairment
Qiuju Wang, Yali Xue, Yujun Zhang, et al.
Page
of 15