Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss
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Title
Massively Parallel Sequencing for Genetic Diagnosis of Hearing Loss
Authors
Keywords
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Journal
OTOLARYNGOLOGY-HEAD AND NECK SURGERY
Volume 153, Issue 2, Pages 175-182
Publisher
SAGE Publications
Online
2015-06-18
DOI
10.1177/0194599815591156
References
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- (2014) A Shearer et al. Genome Medicine
- The Many Faces of Sensorineural Hearing Loss: One Founder and Two Novel Mutations Affecting One Family of Mixed Jewish Ancestry
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- Molecular diagnostics for congenital hearing loss including 15 deafness genes using a next generation sequencing platform
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- Next-generation sequencing identifies a novel compound heterozygous mutation in MYO7A in a Chinese patient with Usher Syndrome 1B
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- A Low-Cost Exon Capture Method Suitable for Large-Scale Screening of Genetic Deafness by the Massively-Parallel Sequencing Approach
- (2012) Wenxue Tang et al. Genetic Testing and Molecular Biomarkers
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