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Browsing byAuthorNakhro K.
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Showing results 1 to 8 of 8
Issue Date
Title
Author(s)
Type
2014
A cohort study of MFN2 mutations and phenotypic spectrums in Charcot-Marie-Tooth disease 2A patients
정성철
Article in Press
2013
A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L
구혜수; 유정현; 최병옥
Article
2011
Compound mutations of PEO1 and TYMP in a progressive external ophthalmoplegia patient with incomplete mitochondrial neurogastrointestinal encephalomyopathy phenotype
최병옥
Article
2012
Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease
최경규; 최병옥; 김한수; 정성철
Article
2013
Missense mutations of mitofusin 2 in axonal Charcot-Marie-Tooth neuropathy: Polymorphic or incomplete penetration?
최병옥
Article
2013
Proximal dominant hereditary motor and sensory neuropathy with proximal dominance association with mutation in the TRK-fused gene
구혜수; 박기덕; 유정현; 최병옥; 정성철
Article
2013
SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3
김형래; 최경규; 구혜수; 유정현; 최병옥; 정성철
Article
2012
Two novel mutations of GARS in Korean families with distal hereditary motor neuropathy type v
최병옥
Article
1
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