DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

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http://www.wikidata.org/entity/Q39858965
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.Molecular diagnostics for hereditary hearing loss in children.Navigating genetic diagnostics in patients with hearing loss.The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.pyAmpli: an amplicon-based variant filter pipeline for targeted resequencing data.Common founder effects of hereditary hemochromatosis, Wilson´s disease, the long QT syndrome and autosomal recessive deafness caused by two novel mutations in the WHRN and TMC1 genes.Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patients.Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss.A new perspective on the genetics of keratoconus: why have we not been more successful?Comprehensive genomic diagnosis of non-syndromic and syndromic hereditary hearing loss in Spanish patients.
P2860

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.

Item
http://www.wikidata.org/entity/Q39858965
description
2016 nî lūn-bûn
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2016年の論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年论文
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2016年论文
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2016年论文
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name
DNA Diagnostics of Hereditary ...... utation Classification System.
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DNA Diagnostics of Hereditary ...... utation Classification System.
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type
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DNA Diagnostics of Hereditary ...... utation Classification System.
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DNA Diagnostics of Hereditary ...... utation Classification System.
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prefLabel
DNA Diagnostics of Hereditary ...... utation Classification System.
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DNA Diagnostics of Hereditary ...... utation Classification System.
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DNA Diagnostics of Hereditary ...... utation Classification System.
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P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698