Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
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Utilization of amplicon-based targeted sequencing panel for the massively parallel sequencing of sporadic hearing impairment patients from Saudi ArabiaGenetic Predisposition to Sporadic Congenital Hearing Loss in a Pediatric PopulationA Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health RecordsIdentification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.Aggregation of the protein TRIOBP-1 and its potential relevance to schizophrenia.Autosomal Recessive Nonsyndromic Hearing Loss: A Case Report with a Mutation in TRIOBP GeneNLRP3 Is Expressed in the Spiral Ganglion Neurons and Associated with Both Syndromic and Nonsyndromic Sensorineural Deafness.Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH.Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of CareMutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.Spectrum of DNA variants for non-syndromic deafness in a large cohort from multiple continents.Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.Emerging roles of TRIO and F-actin-binding protein in human diseases.
P2860
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P2860
Genetic testing for sporadic hearing loss using targeted massively parallel sequencing identifies 10 novel mutations.
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2014 nî lūn-bûn
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2014年の論文
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2014年学术文章
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name
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@en
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@nl
type
label
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@en
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@nl
prefLabel
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@en
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@nl
P2093
P2860
P356
P1433
P1476
Genetic testing for sporadic h ...... identifies 10 novel mutations.
@en
P2093
P2860
P304
P356
10.1111/CGE.12431
P577
2014-08-07T00:00:00Z