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Progress and prospects of next-generation sequencing testing for inherited retinal dystrophyRetinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical DiagnosisWhole Genome Sequencing Revealed Mutations in Two Independent Genes as the Underlying Cause of Retinal Degeneration in an Ashkenazi Jewish Pedigree.Whole exome sequencing using Ion Proton system enables reliable genetic diagnosis of inherited retinal dystrophies.Mass spectrometric analyses of phospholipids in the S334ter-3 rat model of retinal degeneration.The clinical implications of molecular monitoring and analyses of inherited retinal diseases.Illness Perceptions, Psychiatric Manifestations, and Quality of Life in Patients with Inherited Retinal Dystrophies.Combining targeted panel-based resequencing and copy-number variation analysis for the diagnosis of inherited syndromic retinopathies and associated ciliopathies.Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.Application of Whole Exome and Targeted Panel Sequencing in the Clinical Molecular Diagnosis of 319 Chinese Families with Inherited Retinal Dystrophy and Comparison Study
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P2860
description
2014 nî lūn-bûn
@nan
2014年の論文
@ja
2014年学术文章
@wuu
2014年学术文章
@zh-cn
2014年学术文章
@zh-hans
2014年学术文章
@zh-my
2014年学术文章
@zh-sg
2014年學術文章
@yue
2014年學術文章
@zh
2014年學術文章
@zh-hant
name
Systemic diseases associated with retinal dystrophies.
@en
type
label
Systemic diseases associated with retinal dystrophies.
@en
prefLabel
Systemic diseases associated with retinal dystrophies.
@en
P2860
P1476
Systemic diseases associated with retinal dystrophies.
@en
P2093
Emily M Place
Xiang Q Werdich
P2860
P304
P356
10.3109/08820538.2014.959202
P407
P577
2014-09-01T00:00:00Z