An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
about
Current status and new features of the Consensus Coding Sequence databaseExome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathyExome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encounteredHigh throughput exome coverage of clinically relevant cardiac genes.Next generation sequencing for neurological diseases: new hope or new hype?Recurrent subacute post-viral onset of ataxia associated with a PRF1 mutation.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Impacts of massively parallel sequencing for genetic diagnosis of neuromuscular disorders.Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests.Whole exome sequencing and functional studies identify an intronic mutation in TRAPPC2 that causes SEDT.Exome and whole-genome sequencing for gene discovery: the future is now!
P2860
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P2860
An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
2012年论文
@zh
2012年论文
@zh-cn
name
An analysis of exome sequencin ...... isease and spastic paraplegia.
@ast
An analysis of exome sequencin ...... isease and spastic paraplegia.
@en
type
label
An analysis of exome sequencin ...... isease and spastic paraplegia.
@ast
An analysis of exome sequencin ...... isease and spastic paraplegia.
@en
prefLabel
An analysis of exome sequencin ...... isease and spastic paraplegia.
@ast
An analysis of exome sequencin ...... isease and spastic paraplegia.
@en
P2093
P2860
P50
P356
P1433
P1476
An analysis of exome sequencin ...... isease and spastic paraplegia.
@en
P2093
Cornelius F Boerkoel
Hannah Briemberg
Murat Sincan
Praveen F Cherukuri
Rosemarie Rupps
Thomas C Markello
William A Gahl
P2860
P304
P356
10.1002/HUMU.22032
P577
2012-02-28T00:00:00Z