Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
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The genetics of Charcot-Marie-Tooth disease: current trends and future implications for diagnosis and managementA brief review of recent Charcot-Marie-Tooth research and prioritiesThe promise and perils of HDAC inhibitors in neurodegenerationGenes Downregulated in Endometriosis Are Located Near the Known Imprinting Genes.Copy number variations in a population-based study of Charcot-Marie-Tooth diseaseImprinting genes associated with endometriosis.Whole Genome Sequencing Identifies a 78 kb Insertion from Chromosome 8 as the Cause of Charcot-Marie-Tooth Neuropathy CMTX3.Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutationsIntermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: experiences from a German genetic laboratory on the basis of 1206 index patients.Genetic diagnosis of Charcot-Marie-Tooth disease in a population by next-generation sequencingRapid Identification of Pathogenic Variants in Two Cases of Charcot-Marie-Tooth Disease by Gene-Panel Sequencing.
P2860
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P2860
Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies.
description
2013 nî lūn-bûn
@nan
2013 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Diagnostic laboratory testing ...... uture genetic test strategies.
@ast
Diagnostic laboratory testing ...... uture genetic test strategies.
@en
Diagnostic laboratory testing for Charcot Marie Tooth disease
@nl
type
label
Diagnostic laboratory testing ...... uture genetic test strategies.
@ast
Diagnostic laboratory testing ...... uture genetic test strategies.
@en
Diagnostic laboratory testing for Charcot Marie Tooth disease
@nl
prefLabel
Diagnostic laboratory testing ...... uture genetic test strategies.
@ast
Diagnostic laboratory testing ...... uture genetic test strategies.
@en
Diagnostic laboratory testing for Charcot Marie Tooth disease
@nl
P2093
P2860
P356
P1433
P1476
Diagnostic laboratory testing ...... uture genetic test strategies.
@en
P2093
Bjørn Nygård
Helene Hjellnes
Rune Østern
Svein I Mellgren
Toril Fagerheim
Øivind Nilssen
P2860
P2888
P356
10.1186/1471-2350-14-94
P577
2013-09-21T00:00:00Z
P5875
P6179
1005590411