Search research articles
Contact Us
Filters
Showing results (201-210 of 218) with videos related to
Page
of 22
Sort By:
Plos One
|
April 29, 2015
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
Xue Gao, Yu Su, Yu-Lan Chen, et al.
Human Genetics
|
September 9, 2025
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects
Xue Gao, Ying Ma, Wei-Qian Wang, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2014
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness
Meng Meng, Xuchao Li, Huijuan Ge, et al.
The Journal of Molecular Diagnostics : JMD
|
April 25, 2024
Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families
Bo Gao, Yi Jiang, Mingyu Han, et al.
Human Genetics
|
August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
Ryan K Thorpe, Hela Azaiez, Peina Wu, 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.
Plos One
|
March 4, 2014
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
Yu Su, Wen-Xue Tang, Xue Gao, 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.
Frontiers in Genetics
|
November 4, 2021
Gene4HL: An Integrated Genetic Database for Hearing Loss
Shasha Huang, Guihu Zhao, Jie Wu, et al.
Page
of 22
Search research articles
Search
Showing results (201-210 of 218) with videos related to
Sort By:
Page
of 22
Plos One
|
April 29, 2015
Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family
Xue Gao, Yu Su, Yu-Lan Chen, et al.
Human Genetics
|
September 9, 2025
Recessive variants in TWNK cause syndromic and non-syndromic post-synaptic auditory neuropathy through MtDNA replication defects
Xue Gao, Ying Ma, Wei-Qian Wang, 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.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
May 17, 2014
Noninvasive prenatal testing for autosomal recessive conditions by maternal plasma sequencing in a case of congenital deafness
Meng Meng, Xuchao Li, Huijuan Ge, et al.
The Journal of Molecular Diagnostics : JMD
|
April 25, 2024
Targeted Linked-Read Sequencing for Direct Haplotype Phasing of Parental GJB2/SLC26A4 Alleles: A Universal and Dependable Noninvasive Prenatal Diagnosis Method Applied to Autosomal Recessive Nonsyndromic Hearing Loss in At-Risk Families
Bo Gao, Yi Jiang, Mingyu Han, et al.
Human Genetics
|
August 23, 2021
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study
Ryan K Thorpe, Hela Azaiez, Peina Wu, 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.
Plos One
|
March 4, 2014
A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss
Yu Su, Wen-Xue Tang, Xue Gao, 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.
Frontiers in Genetics
|
November 4, 2021
Gene4HL: An Integrated Genetic Database for Hearing Loss
Shasha Huang, Guihu Zhao, Jie Wu, et al.
Page
of 22