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AJOU Open Repository Journal Papers School of Medicine / Graduate School of Medicine

Medical Genetics242

Pub YearTitleAuthor(s)
2008Challenge of Personalized Medicine in the Genomic Era김현주
2013Characterization of functional variants in 33 blood pressure loci using 1000 genomes project data.진현석
2012Characterization of the ATP2B gene family in blood pressure진현석
2005Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up.김현주
2019Cirsium japonicum var. maackii and apigenin block Hif-2alpha-induced osteoarthritic cartilage destruction강이중, 박은국, 양시영, 정선용
1999Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis김행수, 김현주, 양정인, 오기석
2013Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization.김성환, 박문성, 손영배, 이장훈
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
2013Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations.손영배, 정선용, 진현석
2003Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds.김현주, 방오영, 이필휴, 허균
2017Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype손영배
2010Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.고정민
2013Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism.손영배
2010Clinical features and outcomes of holoprosencephaly in Korea.고정민, 김성환
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
2012Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA손영배
2010Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome김현주, 임신영
2018Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism김정현, 박은국, 정선용
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