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Showing results 1 to 60 of 111

Publication YearTitleAJOU
Author
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
2013A genetic effect of IL-5 receptor α polymorphism in patients with aspirin-exacerbated respiratory disease.김승현신유섭예영민박해심
2009A hemolytic transfusion reaction due to Anti-Ku antibody in a patient with Knull phenotype: the first case in Korea.임영애이기명
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.주인수허균
2011A synonymous variation in protease-activated receptor-2 is associated with atopy in Korean children.박해심김승현
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.장영주김형일
2017Aspirin-exacerbated respiratory disease: an update이지호박해심
2007Association between a TGFbeta1 promoter polymorphism and rhinosinusitis in aspirin-intolerant asthmatic patients.김승현박해심
2008Association between a TGFbeta1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population.박한정예영민김승현박해심
2007Association between polymorphisms in prostanoid receptor genes and aspirin-intolerant asthma.김승현박해심
2016Association between the CpG island methylator phenotype and its prognostic significance in primary pulmonary adenocarcinoma고영화
2016Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma김승현신유섭예영민
2009Association of CRTH2 gene polymorphisms with the required dose of antihistamines in patients with chronic urticaria.김승현예영민박해심
2014Association of serum periostin with aspirin-exacerbated respiratory disease.반가영유혜수신유섭예영민남동호박해심
2008Association of specific IgE to staphylococcal superantigens with the phenotype of chronic urticaria.예영민박한정김승현박해심
2010Association of the CCR3 gene polymorphism with aspirin exacerbated respiratory disease.김승현최길순예영민박해심
2011Association of thromboxane A2 receptor (TBXA2R) gene polymorphism in patients with aspirin-intolerant acute urticaria.김승현김주희예영민박해심
2005Association of thromboxane A2 receptor gene polymorphism with the phenotype of acetyl salicylic acid-intolerant asthma.김승현박해심
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.김현아김승현박해심서창희
2016CD11c is upregulated in CD8+ T cells of patients with Behcet's disease박영준박선이은소
2005Centrosome amplification and multinuclear phenotypes are Induced by hydrogen peroxide.이재호조혜성
2013Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1.임신영손영배
2011Clinical and genetic characteristics of Korean patients with Gaucher disease.정선용김현주
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
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.황동훈주인수김병곤
2006Cysteinyl leukotriene receptor 1 promoter polymorphism is associated with aspirin-intolerant asthma in males.김승현서창희남동호박해심
2007Differential contribution of the CysLTR1 gene in patients with aspirin hypersensitivity.김승현박해심
2017Discoidin domain receptor 1 activity drives an aggressive phenotype in gastric carcinoma허훈이다근한상욱권지은김영배
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.신승수박주헌
2004Endophilin B1 is required for the maintenance of mitochondrial morphology.정선용
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.임인경윤수한윤계순
2015From cell senescence to age-related diseases: differential mechanisms of action of senescence-associated secretory phenotypes.변해옥이영경윤계순
2013Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.진현석정윤석
2011Genetic basis of congenital and infantile nephrotic syndromes.배기수
2013Genomic copy number alterations with transcriptional deregulation at 6p identify an aggressive HCC phenotype.최용준강호철이수환백은주우현구
2009Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis.유재은정선용박문성김현주윤수한
2002Hrp3, a chromodomain helicase/ATPase DNA binding protein, is required for heterochromatin silencing in fission yeast.이명애
2017Identification and Functional Characterization of ST3GAL5 and ST8SIA1 Variants in Patients with Thyroid-Associated Ophthalmopathy국경훈
2010Identification of a cholangiocarcinoma-like gene expression trait in hepatocellular carcinoma.우현구
2011Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.정선용김현주
2013Identification of asthma clusters in two independent Korean adult asthma cohorts.남동호
2010Immunoglobulin G subclass deficiency is the major phenotype of primary immunodeficiency in a Korean adult cohort.김주희최길순김정은예영민남동호박해심
2014Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).손영배
2016Impact of the beta-1 adrenergic receptor polymorphism on tolerability and efficacy of bisoprolol therapy in Korean heart failure patients: association between beta adrenergic receptor polymorphism and bisoprolol therapy in heart failure (ABBA) study신준한
2013Implications of time-series gene expression profiles of replicative senescence.변해옥김유선우현구윤계순
2010Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.고정민
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