Browsing by Keyword : Mutation/genetics

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Showing results 1 to 33 of 33

Pub YearTitleAuthor(s)
2011A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.김옥화
2012A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene손영배
2014A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.정주용
2009Accumulation of labile zinc in neurons and astrocytes in the spinal cords of G93A SOD-1 transgenic mice.곽병주
2012Allelic loss of susceptibility loci and the occurrence of BRAF and RAS mutations in patients with familial non-medullary thyroid cancer소의영
2015BRAF V600E mutation is a useful marker for differentiating Rathke's cleft cyst with squamous metaplasia from papillary craniopharyngioma.김장희
2015BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas.이다근
2009Calpain-mediated N-cadherin proteolytic processing in brain injury.문창현, 백은주, 이수환, 정이숙
2009Clinical characteristics and VPS33B mutations in patients with ARC syndrome.장주영
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
1995Contribution of B cell subsets to delayed development of MAIDS in xid mice.김완기
2010Definition of ubiquitination modulator COP1 as a novel therapeutic target in human hepatocellular carcinoma.우현구
2000Evidence that the 5'-end cap structure is essential for encapsidation of hepatitis B virus pregenomic RNA.윤계순
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2016G2385R and I2020T Mutations Increase LRRK2 GTPase Activity조은혜
2009Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.김현주, 박문성, 유재은, 윤수한, 정선용
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.김현주, 정선용
2018Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder김정현, 박찬배, 이영수, 임신영, 정선용
2013IDH1 mutations in oligodendroglial tumors: comparative analysis of direct sequencing, pyrosequencing, immunohistochemistry, nested PCR and PNA-mediated clamping PCR.이다근
2015Loss of parkin promotes lipid rafts-dependent endocytosis through accumulating caveolin-1: implications for Parkinson's disease.박상면, 조은혜, 주일로, 차선희
2011Mitochondrial DNA mutations in disease and aging.박찬배
2004Mitotic aberration coupled with centrosome amplification is induced by hepatitis B virus X oncoprotein via the Ras-mitogen-activated protein/extracellular signal-regulated kinase-mitogen-activated protein pathway.이재호, 조혜성
2003Modulation of the N-type calcium channel gene expression by the alpha subunit of Go.김성환, 서해영, 이영돈
2008Multiple endocrine neoplasia type 1 with multiple leiomyomas linked to a novel mutation in the MEN1 gene.김현주, 정선용
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2018Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics장정훈, 정연훈
2000Novel 67-bp insertional mutation in the ASS gene in a patient with citrullinemia.한시훈
2010Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.고정민
2013Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.김옥화
2014Phosphoacceptors threonine 162 and serines 170 and 178 within the carboxyl-terminal RRRS/T motif of the hepatitis B virus core protein make multiple contributions to hepatitis B virus replication.김경민, 박선, 신호준, 정재성, 최용준
2018Recapitulation of pharmacogenomic data reveals that invalidation of SULF2 enhance sorafenib susceptibility in liver cancer김혁훈, 왕희정, 우현구, 윤사라
2010TRPV4-pathy, a novel channelopathy affecting diverse systems.김옥화
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