| 2010 | | De novo pericentric inversion of chromosome 9 in congenital anomaly. | 정선용 |
| 2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
| 2016 | | Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies | 손영배 |
| 2007 | | Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea | 김현주 |
| 2012 | | Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty | 손영배 |
| 2001 | | Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy. | 김현주 |
| 2015 | | Disease-specific growth charts for Korean infants with Prader-Willi syndrome. | 손영배 |
| 2015 | | Disease-specific Growth Charts of Marfan Syndrome Patients in Korea. | 손영배 |
| 2019 | | Drp1 Phosphorylation Is Indispensable for Steroidogenesis in Leydig Cells | 정선용 |
| 2010 | | Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain | 고정민, 김찬, 한경림 |
| 2015 | | Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II. | 손영배 |
| 2016 | | Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation | 김정현, 박은국, 정선용 |
| 2022 | | Effects of Loganin on Bone Formation and Resorption In Vitro and In Vivo | 김정현, 박은국, 정선용 |
| 2004 | | Effects of Pamidronate Treatment on Osteogenesis Imperfecta | 김대중, 김현주, 이관우, 정윤석 |
| 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 |
