| 2024 | | Biomarkers of Glycosaminoglycans (GAG) accumulation in patients with mucopolysaccharidosis type VI—LeukoGAG, Corneal Opacification (COM) and Carotid Intima Media Thickening (CIMT) | 손영배 |
| 1996 | | Buschke-Ollendorff Syndrome(A Case Report) | 김병석, 김현주, 원예연, 이은소, 주희재, 한경진 |
| 2016 | | Caloric restriction improves diabetes-induced cognitive deficits by attenuating neurogranin-associated calcium signaling in high-fat diet-fed mice | 김정현, 정선용 |
| 2016 | | Caloric restriction of db/db mice reverts hepatic steatosis and body weight with divergent hepatic metabolism | 김정현, 정선용 |
| 2015 | | Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. | 손영배 |
| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
| 2015 | | Cerebral ischemia-induced mitochondrial changes in a global ischemic rat model by AFM. | 박은국 |
| 2008 | | Challenge of Personalized Medicine in the Genomic Era | 김현주 |
| 2013 | | Characterization of functional variants in 33 blood pressure loci using 1000 genomes project data. | 진현석 |
| 2012 | | Characterization of the ATP2B gene family in blood pressure | 진현석 |
| 2005 | | Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. | 김현주 |
| 2019 | | Cirsium japonicum var. maackii and apigenin block Hif-2alpha-induced osteoarthritic cartilage destruction | 강이중, 박은국, 양시영, 정선용 |
| 1999 | | Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis | 김행수, 김현주, 양정인, 오기석 |
| 2013 | | Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization. | 김성환, 박문성, 손영배, 이장훈 |
| 2013 | | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 손영배, 임신영 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2013 | | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | 손영배, 정선용, 진현석 |
| 2003 | | Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. | 김현주, 방오영, 이필휴, 허균 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2010 | | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. | 고정민 |
