Browsing by Keyword : Phenotype

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Showing results 1 to 60 of 129

Pub YearTitleAuthor(s)
2009A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.고정민
2017A Case of Therapy-Related Acute Leukemia With Mixed Phenotype With BCR-ABL1 After Treatment of Diffuse Large B-Cell Lymphoma조성란
2009A comparative analysis of the cell biology of senescence and aging.윤계순
2013A genetic effect of IL-5 receptor α polymorphism in patients with aspirin-exacerbated respiratory disease.김승현, 박해심, 신유섭, 예영민
2009A hemolytic transfusion reaction due to Anti-Ku antibody in a patient with Knull phenotype: the first case in Korea.이기명, 임영애
2000A novel mutation in the beta-hexosaminidase beta-subunit gene in a 14-month-old Korean boy with Sandhoff disease: first reported Korean case.한시훈
2014A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.정주용
2004A novel point mutation in PMP22 gene associated with a familial case of Charcot-Marie-Tooth disease type 1A with sensorineural deafness.주인수, 허균
2011A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children.김승현, 박해심
2016AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II손영배
2015Adenovirus expressing dual c-Met-specific shRNA exhibits potent antitumor effect through autophagic cell death accompanied by senescence-like phenotypes in glioblastoma cells.최경숙
2003Analysis of the phenotypes of Jurkat clones with different TRAIL-sensitivities.김형일, 장영주
2017Aspirin-exacerbated respiratory disease: an update박해심, 이지호
2007Association between a TGFbeta1 promoter polymorphism and rhinosinusitis in aspirin-intolerant asthmatic patients.김승현, 박해심
2008Association between a TGFbeta1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population.김승현, 박한정, 박해심, 예영민
2007Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma.김승현, 박해심
2016Association between the CpG island methylator phenotype and its prognostic significance in primary pulmonary adenocarcinoma고영화
2019Association of Asian mitochondrial DNA haplogroup B with new development of knee osteoarthritis in Koreans조남한
2016Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma김승현, 신유섭, 예영민
2009Association of CRTH2 gene polymorphisms with the required dose of antihistamines in patients with chronic urticaria.김승현, 박해심, 예영민
2014Association of serum periostin with aspirin-exacerbated respiratory disease.남동호, 박해심, 반가영, 신유섭, 예영민, 유혜수
2008Association of specific IgE to staphylococcal superantigens with the phenotype of chronic urticaria.김승현, 박한정, 박해심, 예영민
2010Association of the CCR3 gene polymorphism with aspirin exacerbated respiratory disease.김승현, 박해심, 예영민, 최길순
2011Association of thromboxane A2 receptor (TBXA2R) gene polymorphism in patients with aspirin-intolerant acute urticaria.김승현, 김주희, 박해심, 예영민
2005Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma.김승현, 박해심
2015Association of TNFSF15 polymorphisms in Korean children with Crohn's disease.장주영
2010Association of vascular endothelial growth factor polymorphisms with nonproliferative and proliferative diabetic retinopathy.이관우
1997Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome.김옥화
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
2004Bcl-xL and E1B-19K proteins inhibit p53-induced irreversible growth arrest and senescence by preventing reactive oxygen species-dependent p38 activation.최경숙
2003Bone morphogenetic protein-2 facilitates expression of chondrogenic, not osteogenic, phenotype of human intervertebral disc cells.한경진
2009C-reactive protein gene polymorphisms in disease susceptibility and clinical manifestations of Korean systemic lupus erythematosus.김승현, 김현아, 박해심, 서창희
2018Can persistent organic pollutants distinguish between two opposite metabolic phenotypes in lean Koreans?김대중, 하경화
2016CD11c is upregulated in CD8+ T cells of patients with Behcet's disease박선, 박영준, 이은소
2019Cellular senescence in cancer박태준
2005Centrosome amplification and multinuclear phenotypes are Induced by hydrogen peroxide.이재호, 조혜성
2015Classification and implementation of asthma phenotypes in elderly patients.남동호
2013Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.손영배, 임신영
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.김현주, 정선용
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2016Clinical implication of the serum periostin level for differentiating phenotypes of NSAID hypersensitivity박해심, 반가영, 예영민, 이영수
2017Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis손영배
2011Combination of multifaceted strategies to maximize the therapeutic benefits of neural stem cell transplantation for spinal cord repair.김병곤, 주인수, 황동훈
2019CRISPR-Cas9-mediated therapeutic editing of Rpe65 ameliorates the disease phenotypes in a mouse model of Leber congenital amaurosis이기황
2006Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males.김승현, 남동호, 박해심, 서창희
2007Differential contribution of the CysLTR1 gene in patients with aspirin hypersensitivity.김승현, 박해심
2017Discoidin domain receptor 1 activity drives an aggressive phenotype in gastric carcinoma권지은, 김영배, 이다근, 한상욱, 허훈
2019Disentangling the genetics of lean mass조남한
2015Downregulation of PEA-15 reverses G1 arrest, and nuclear and chromatin changes of senescence phenotype via pErk1/2 translocation to nuclei.임인경
2014Emphysematous phenotype is an independent predictor for frequent exacerbation of COPD.박주헌, 신승수
2004Endophilin B1 is required for the maintenance of mitochondrial morphology.정선용
2018Factors affecting quality of life in patients with vitiligo: a nationwide study강희영, 김유찬
2014First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.손영배
2006Formation of elongated giant mitochondria in DFO-induced cellular senescence: involvement of enhanced fusion process through modulation of Fis1.윤계순, 윤수한, 임인경
2015From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes.변해옥, 윤계순, 이영경
2013Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.정윤석, 진현석
2011Genetic basis of congenital and infantile nephrotic syndromes.배기수
2013Genomic copy number alterations with transcriptional deregulation at 6p identify an aggressive HCC phenotype.강호철, 백은주, 우현구, 이수환, 최용준
2009Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.김현주, 박문성, 유재은, 윤수한, 정선용
2002Hrp3, a chromodomain helicase/ATPase DNA binding protein, is required for heterochromatin silencing in fission yeast.이명애
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