| 2010 | | Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1. | 김현주, 정선용 |
| 2016 | | Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls | 권은별, 이해상, 정선용, 황진순 |
| 2013 | | Low-frequency Mosaicism of Trisomy 14, Missed by Array CGH | 손영배 |
| 2018 | | Makorin 1 Regulates Developmental Timing in Drosophila | 김은영, 이해상, 정선용, 황진순 |
| 2007 | | Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence. | 김수정, 정선용, 조혜성 |
| 2008 | | Molecular diagnosis of fragile X syndrome in a female child | 김현주, 정선용 |
| 2012 | | Molecular genetic analysis of TWIST1 and FGFR3 genes in Korean patients with coronal synostosis: identification of three novel TWIST1 mutations | 박동하, 윤수한, 정선용 |
| 2013 | | Mutation spectrum of NF1 and clinical characteristics in 78 Korean patients with neurofibromatosis type 1. | 김현주, 손영배, 정선용 |
| 2012 | | Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism | 김현주, 정선용 |
| 2007 | | National survey for genetic counseling and demands for Professional genetic counselor | 김현주, 정윤석 |
| 2021 | | Neurofibromin deficiency causes epidermal growth factor receptor upregulation through the activation of Ras/ERK/SP1 signaling pathway in neurofibromatosis type 1-associated malignant peripheral nerve sheet tumor | 김정현, 박건후, 박은국, 이창근, 정선용 |
| 2019 | | Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
| 2018 | | Neuroprotective Effects of Schisandra chinensis and Ribes fasciculatum Extract on Hydrogen Peroxide-Mediated Oxidative Stress in Neuroblastic SH-SY5Y Cell Line | 박은국, 정선용 |
| 2013 | | NF1 deficiency causes Bcl-xL upregulation in Schwann cells derived from neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors. | 김영배, 손영배, 임현이, 정선용, 진현석, 한재호 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
| 2004 | | Novel and recurrent mutations of the LDL receptor gene in Korean patients with familial hypercholesterolemia. | 김현주 |
| 2010 | | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 고정민 |
| 2009 | | Novel Therapies for Type 2 Diabetes Mellitus | 고정민 |
| 2013 | | Obesity and calcinosis cutis: characteristic early signs of infantile pseudohypoparathyroidism. | 손영배, 이은소, 조재호, 황진순 |
| 2013 | | Ocular Abnormality of Korean Patients with Molecular Genetically Confirmed Gaucher Disease | 김현주, 정선용 |
| 2013 | | Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1. | 손영배 |
| 2021 | | Osteoprotective effects of loganic acid on osteoblastic and osteoclastic cells and osteoporosis-induced mice | 김정현, 박은국, 이창근, 정선용 |
| 2013 | | p21(WAF¹/C¹P¹) deficiency induces mitochondrial dysfunction in HCT116 colon cancer cells. | 정선용 |
| 2010 | | Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. | 고정민, 배기수 |
| 2012 | | Pathologic diagnosis of recurrent glioblastoma: morphologic, immunohistochemical, and molecular analysis of 20 paired cases | 김보영, 김세혁, 김영배, 김장희, 신승수, 이기범, 이현우, 정선용, 한재호 |
| 2015 | | Pharmacokinetics, Pharmacodynamics, and Efficacy of a Novel Long-Acting Human Growth Hormone: Fc Fusion Protein. | 손영배 |
| 2013 | | Phase I/II clinical trial of enzyme replacement therapy with idursulfase beta in patients with mucopolysaccharidosis II (Hunter syndrome). | 손영배 |
| 2010 | | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome | 고정민, 김현주 |
| 2011 | | Poncirin promotes osteoblast differentiation but inhibits adipocyte differentiation in mesenchymal stem cells. | 정선용, 정윤석 |
| 2004 | | Pontine atrophy precedes cerebellar degeneration in spinocerebellar ataxia 7: MRI-based volumetric analysis. | 김선용, 김현주, 방오영, 이필휴, 허균 |
| 2017 | | Rare presentation of Rothmund-Thomson syndrome with predominantly cutaneous findings | 손영배, 이은소 |
| 2010 | | Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. | 진현석 |
| 2012 | | Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome | 손영배, 임신영 |
| 2011 | | Replicated association between genetic variation in the PARK2 gene and blood pressure. | 정선용, 진현석 |
| 2012 | | Replicated Association between SLC4A4 Gene and Blood Pressure Traits in the Korean Population | 진현석 |
| 2014 | | Retinal pigment epithelial cells undergoing mitotic catastrophe are vulnerable to autophagy inhibition. | 정선용 |
| 2012 | | Retrospective analysis of the clinical manifestations and survival of Korean patients with mucopolysaccharidosis type II: emphasis on the cardiovascular complication and mortality cases | 손영배 |
| 2022 | | Ribes fasciculatum Ameliorates High-Fat-Diet-Induced Obesity by Elevating Peripheral Thermogenic Signaling | 박은국 |
| 2022 | | RNA analysis of the GALNS transcript reveals novel pathogenic mechanisms associated with Morquio syndrome A | 손영배 |
| 2004 | | Roles of the mammalian mitochondrial fission and fusion mediators Fis1, Drp1, and Opa1 in apoptosis. | 정선용 |
| 2015 | | Safety and efficacy of enzyme replacement therapy with idursulfase beta in children aged younger than 6 years with Hunter syndrome. | 손영배 |
| 2011 | | SCA in Korea and its regional distribution: a multicenter analysis. | 김현주, 용석우 |
| 2020 | | Scopolin Attenuates Osteoporotic Bone Loss in Ovariectomized Mice | 김정현, 박은국, 정선용 |
| 2020 | | Scopolin Prevents Adipocyte Differentiation in 3T3-L1 Preadipocytes and Weight Gain in an Ovariectomy-Induced Obese Mouse Model | 김정현, 박은국, 이창근, 정선용 |
| 2016 | | Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization | 손영배 |
| 2021 | | Somatic uniparental disomy mitigates the most damaging EFL1 allele combination in Shwachman-Diamond syndrome | 손영배 |
| 2007 | | Spinocerebellar ataxia 7 (SCA7) | 김현주, 정선용 |
| 2017 | | STRA6 as a possible candidate gene for pathogenesis of osteoporosis from RNAseq analysis of human mesenchymal stem cells | 원예연, 정선용, 정윤석, 최용준 |
| 2011 | | Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome | 김현주 |
| 1998 | | Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation. | 김현주 |
