Browsing by Keyword : Genetic Association Studies

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Showing results 18 to 40 of 40

Pub YearTitleAuthor(s)
2011Effect of Toll-like receptor 4 gene polymorphisms on work-related respiratory symptoms and sensitization to wheat flour in bakery workers.김승현, 박해심
2014Exonic variants associated with development of aspirin exacerbated respiratory diseases.박해심
2011Exploring genomic profiles of hepatocellular carcinoma우현구
2017Genetic variants of the gasdermin B gene associated with the development of aspirin-exacerbated respiratory diseases박해심
2023Genotype–phenotype correlation of X-linked Alport syndrome observed in both genders: a multicenter study in South Korea배기수
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2020Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing금창대, 노정기, 이해상, 정선용, 정재연, 황진순
2016Imputing Variants in HLA-DR Beta Genes Reveals That HLA-DRB1 Is Solely Associated with Rheumatoid Arthritis and Systemic Lupus Erythematosus서창희
2010Interleukin 6 gene polymorphisms are associated with systemic lupus erythematosus in Koreans.김승현, 김현아, 박해심, 서창희
2010Linkage and association studies of joint morbidity from rheumatoid arthritis.민경복
2022Mutation spectrum and genotype–phenotype correlations in 157 Korean CADASIL patients: a multicenter study박서진
2013Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1.김현주, 손영배, 정선용
2017No association between estrogen receptor gene polymorphisms and premature thelarche in girls윤종서, 이해상, 황진순
2018Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population조남한
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2012Prioritization of SNPs for genome-wide association studies using an interaction model of genetic variation, gene expression, and trait variation백효정
2012Response to growth hormone therapy in children with Noonan syndrome: correlation with or without PTPN11 gene mutation황진순
2011Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.김옥화
2014Single nucleotide polymorphisms associated with abnormal coronary microvascular function.최병주
2010The genetic association of the FPRL1 promoter polymorphism with chronic urticaria in a Korean population.김승현, 박해심
2012TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients김옥화
2011Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).김옥화
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
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