Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

Item
http://www.wikidata.org/entity/Q35376490
Evaluation of the Ion Torrent Personal Genome Machine for Gene-Targeted Studies Using Amplicons of the Nitrogenase Gene nifHSocial Health Insurance-Based Simultaneous Screening for 154 Mutations in 19 Deafness Genes Efficiently Identified Causative Mutations in Japanese Hearing Loss Patients.Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss PatientsA recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype.Constitutive activation of DIA1 (DIAPH1) via C-terminal truncation causes human sensorineural hearing lossMassively Parallel Sequencing for Genetic Diagnosis of Hearing Loss: The New Standard of CareNGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment.Validation of copy number variation analysis for next-generation sequencing diagnostics.Induced Mutagenesis in UGT74S1 Gene Leads to Stable New Flax Lines with Altered Secoisolariciresinol Diglucoside (SDG) Profiles.Delayed diagnosis of a patient with Usher syndrome 1C in a Louisiana Acadian family highlights the necessity of timely genetic testing for the diagnosis and management of congenital hearing loss.
P2860

Clinical application of a custom AmpliSeq library and ion torrent PGM sequencing to comprehensive mutation screening for deafness genes

Item
http://www.wikidata.org/entity/Q35376490
description
2015 nî lūn-bûn
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2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
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2015年論文
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2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
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name
Clinical application of a cust ...... n screening for deafness genes
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Clinical application of a cust ...... n screening for deafness genes
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type
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Clinical application of a cust ...... n screening for deafness genes
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Clinical application of a cust ...... n screening for deafness genes
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Clinical application of a cust ...... n screening for deafness genes
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Clinical application of a cust ...... n screening for deafness genes
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Clinical application of a cust ...... n screening for deafness genes
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P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932