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Showing results 1 to 10 of 10

Issue Date	Title	Author(s)	Type
2013	Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2	최경규; 구혜수; 박기덕; 최병옥	Article
2012	Exome sequencing is an efficient tool for genetic screening of Charcot-Marie-Tooth Disease	최경규; 최병옥; 김한수; 정성철	Article
2005	Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans	정성철	Article
2005	Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria	정성철; 박주원	Article
2005	In vitro differentiation of mouse embryonic stem cells: Enrichment of endodermal cells in the embryoid body	정성철	Article
2004	Quantitative analysis of SMN1 gene and estimation of SMN1 deletion carrier frequency in korean population based on real-time PCR	정성철; 조인호	Article
2014	Recessive C10orf2 mutations in a family with infantile-onset spinocerebellar ataxia, sensorimotor polyneuropathy, and myopathy	구혜수; 유정현	Article
2005	Reversal of gene expression profile in the phenylketonuria mouse model after adeno-associated virus vector-mediated gene therapy	정성철; 조인호; 박주원	Article
2006	Structural and functional analyses of mutations of the human phenylalanine hydroxylase gene	정성철	Article
2004	The molecular basis of phenylketonuria in Koreans	정성철; 조인호	Article

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