| 2007 | | 16q-linked autosomal dominant cerebellar ataxia in a Korean family. | 김현주, 이필휴, 정선용 |
| 2018 | | 3'-Sialyllactose as an inhibitor of p65 phosphorylation ameliorates the progression of experimental rheumatoid arthritis | 강이중, 양시영, 정선용 |
| 2014 | | A biochemical and physicochemical comparison of two recombinant enzymes used for enzyme replacement therapies of hunter syndrome. | 손영배 |
| 2013 | | A Case of CATCH22 Syndrome Diagnosed in Postmenopausal Woman | 손영배, 정윤석 |
| 2012 | | A Case of CATCH22 Syndrome with Normal Parathyroid Function | 손영배, 안소연, 정윤석 |
| 2010 | | A case of donor-derived granulocytic sarcoma after allogeneic hematopoietic stem cell transplantation | 강석윤, 박준성, 이현우, 정선용, 정성현, 최진혁, 한재호 |
| 2007 | | A Case of Down`s Syndrome with Thyrotoxic Crisis | 김대중, 김현주, 김혜진, 이관우, 정윤석 |
| 2005 | | A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene | 김대중, 김연경, 김철호, 김현주, 송경은, 안상미, 이관우, 정선용, 정선혜, 정윤석 |
| 2007 | | A Case of Familial Multiple Endocrine Neoplasia Type 1 with MEN1 Gene Mutation. | 김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석, 최용준 |
| 2014 | | A Case of Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (NICCD) Confirmed by SLC25A13 Mutation | 손영배, 장주영 |
| 2007 | | A Case of Resistance Syndrome to Thyroid Hormone Associated with Mutation (G345D) in the Thyroid Hormone Receptor Beta Gene | 김대중, 김현주, 김혜진, 이관우, 정선용, 정윤석 |
| 2001 | | A case of slipped capital femoral epiphysis developed during growth hormone treatment | 김현만, 김현주, 이관우, 이수진, 정윤석 |
| 1998 | | A Case of Splenic Embolization Followed by Splenectomy with Preservation of Accessory Spleen in Gaucher’s Disease | 김명욱, 김현주, 소의영, 임현이 |
| 2017 | | A case report of pycnodysostosis with atypical femur fracture diagnosed by next-generation sequencing of candidate genes | 손영배, 송형근, 정윤석, 최용준 |
| 2022 | | A Comparison of the Antiosteoporotic Effects of Cornelian Cherry (Cornus mas L.) Extracts from Red and Yellow Fruits Containing Different Constituents of Polyphenols and Iridoids in Osteoblasts and Osteoclasts | 박은국, 정선용 |
| 2008 | | A Family Case of Complete Androgen Insensitivity Syndrome in Sisters due to a Novel Mutation in the Androgen Receptor Gene | 김미란, 김현주, 정윤석, 주희재 |
| 2014 | | A Korean case of neurofibromatosis type 1 with an exonic splicing enhancer site mutation | 박상욱, 손영배, 정선용 |
| 2012 | | A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene | 손영배 |
| 2009 | | A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia | 고정민, 곽규성, 김현주 |
| 2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome. | 김옥화, 김현주, 정선용 |
