Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
about
The need to develop a patient-centered precision medicine model for adults with chronic disability.A recessive ataxia diagnosis algorithm for the next generation sequencing era.Clinical application of next generation sequencing in hereditary spinocerebellar ataxia: increasing the diagnostic yield and broadening the ataxia-spasticity spectrum. A retrospective analysis.Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.A new approach based on targeted pooled DNA sequencing identifies novel mutations in patients with Inherited Retinal Dystrophies
P2860
Mini-Exome Coupled to Read-Depth Based Copy Number Variation Analysis in Patients with Inherited Ataxias.
description
2016 nî lūn-bûn
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2016年の論文
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2016年学术文章
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2016年学术文章
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2016年学术文章
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2016年学术文章
@zh-my
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@zh-sg
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2016年學術文章
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name
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@en
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@nl
type
label
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@en
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@nl
prefLabel
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@en
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mini-Exome Coupled to Read-Dep ...... tients with Inherited Ataxias.
@en
P2093
Adrian Degardin
Anelia Benarrosh
Bertrand Carlander
Cecile Hubsch
Cecilia Marelli
Christian Geny
Christine Tranchant
Claire Guissart
Claude Mignard
Cyril Goizet
P2860
P304
P356
10.1002/HUMU.23063
P50
P577
2016-08-16T00:00:00Z