| 2019 | | Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial | 손영배 |
| 2020 | | Efficacy and Safety of Combined Extracts of Cornus officinalis and Ribes fasciculatum for Body Fat Reduction in Overweight Women | 김정현, 박은국, 이창근, 정선용 |
| 2004 | | Endophilin B1 is required for the maintenance of mitochondrial morphology. | 정선용 |
| 2012 | | Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation | 손영배 |
| 2016 | | Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens | 김연희, 김장희, 소의영, 이기범, 이용희, 이정훈, 임현이, 정선용, 한재호 |
| 2015 | | Experimental study of the potential hazards of surgical smoke from powered instruments. | 김철호, 김현준, 정선용, 한재호 |
| 2004 | | Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. | 김현주 |
| 2017 | | Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing | 손영배, 이다근, 장주영 |
| 2012 | | Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature | 손영배 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
| 2013 | | Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA. | 손영배 |
| 2014 | | GATA4 negatively regulates osteoblast differentiation by downregulation of Runx2. | 변해옥, 송인선, 윤계순 |
| 2021 | | Genetic Analysis Using a Next Generation Sequencing-Based Gene Panel in Patients With Skeletal Dysplasia: A Single-Center Experience | 김정택, 손영배, 조재호 |
| 2013 | | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 정윤석, 진현석 |
| 2007 | | Genetic counseling in Korean health care system | 김현주 |
| 2013 | | Genetic investigation of patients with undetectable peaks of growth hormone after two provocation tests. | 손영배 |
| 2022 | | Genetic obesity: an update with emerging therapeutic approaches | 손영배 |
| 2010 | | Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. | 진현석 |
| 2010 | | Genetic variations in the sodium balance-regulating genes ENaC, NEDD4L, NDFIP2 and USP2 influence blood pressure and hypertension. | 진현석 |
| 2012 | | Genetic Variations of ESR1 Gene are Associated with Bone Mineral Density Traits in Korean Women | 진현석 |
| 2011 | | Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty | 고정민, 이해상, 황진순 |
| 2013 | | Genome-wide association study of serum albumin:globulin ratio in Korean populations. | 진현석 |
| 2013 | | Glycogen Synthase Kinase 3 Inactivation Induces Cell Senescence through Sterol Regulatory Element Binding Protein 1-Mediated Lipogenesis in Chang Cells | 송인선, 윤계순 |
| 2013 | | Height and Bone Phenotype of 22q11.2 Deletion Syndrome: Lessons from the Gene Analysis of Three Cases | 손영배, 임신영, 정윤석 |
| 1999 | | Hepatopulmonary syndrome in Gaucher disease with right-to-left shunt: evaluation and measurement using Tc-99m MAA. | 김현주, 박찬희, 한명호 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. | 손영배 |
| 2013 | | High-dose enzyme replacement therapy attenuates cerebroventriculomegaly in a mouse model of mucopolysaccharidosis type II. | 손영배 |
| 2012 | | Histone deacetylase inhibitors induce mitochondrial elongation | 정선용 |
| 2017 | | Hochu-ekki-to Treatment Improves Reproductive and Immune Modulation in the Stress-Induced Rat Model of Polycystic Ovarian Syndrome | 박은국 |
| 2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. | 손영배 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 2018 | | Identification of a rare homozygous c.790C>T variation in the TFB2M gene in Korean patients with autism spectrum disorder | 김정현, 박찬배, 이영수, 임신영, 정선용 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2020 | | Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing | 금창대, 노정기, 이해상, 정선용, 정재연, 황진순 |
| 2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
| 2014 | | Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome). | 손영배 |
| 2014 | | Improvement of cardiac function by short-term enzyme replacement therapy in a murine model of cardiomyopathy associated with Hunter syndrome evaluated by serial echocardiography with speckle tracking 2-D strain analysis. | 손영배 |
| 2013 | | Improvement of CNS defects via continuous intrathecal enzyme replacement by osmotic pump in mucopolysaccharidosis type II mice. | 손영배 |
| 2011 | | In Vitro and In Vivo Inhibition of Glucocorticoid-induced Osteoporosis by the Hexane Extract of Poncirus trifoliata. | 정선용, 정윤석 |
| 2010 | | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. | 고정민 |
| 2012 | | Inhibition of Bcl-xL by ABT-737 enhances chemotherapy sensitivity in neurofibromatosis type 1-associated malignant peripheral nerve sheath tumor cells | 김보영, 김현주, 임현이, 정선용, 진현석, 한재호 |
| 2022 | | Inhibitory Effect of Ulmus davidiana and Cornus officinalis Extracts on Osteoporotic Bone Loss In Vitro and In Vivo | 김정현, 박은국, 정선용 |
| 2023 | | Inhibitory Effects of Loganin on Adipogenesis In Vitro and In Vivo | 김정현, 박은국, 정선용 |
| 2013 | | Interaction of motor training and intermittent theta burst stimulation in modulating motor cortical plasticity: influence of BDNF Val66Met polymorphism. | 김병곤, 정선용 |
| 2024 | | Interferon-Induced Transmembrane Protein 1 (IFITM1) Is Downregulated in Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumors | 김정현, 박은국, 정선용 |
| 2015 | | Isolated patchy heterochromia of the scalp hair. | 김유찬, 손성향, 손영배 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 2020 | | Loss of Heterozygosity at Chromosome 16q Is a Negative Prognostic Factor in Korean Pediatric Patients with Favorable Histology Wilms Tumor: A Report of the Korean Pediatric Hematology Oncology Group (K-PHOG) | 노오규, 박준은, 이용희, 정선용 |
