| 1997 | | Atypical skeletal changes in otopalatodigital syndrome type II: phenotypic overlap among otopalatodigital syndrome type II, boomerang dysplasia, atelosteogenesis type I and type III, and lethal male phenotype of Melnick-Needles syndrome. | 김옥화 |
| 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 |
| 2018 | | Craniovertebral Junction Abnormalities in Surgical Patients With Congenital Muscular Torticollis | 김상현, 나은우, 박성훈, 임신영 |
| 2000 | | Efficacy of MRI in complicated congenital heart disease with visceral heterotaxy syndrome. | 원제환 |
| 1998 | | Extensive form of aplasia cutis congenita: a new syndrome? | 김행수, 박문성, 한시훈, 홍창호 |
| 2017 | | Identification of a Novel Mutation in BRD4 that Causes Autosomal Dominant Syndromic Congenital Cataracts Associated with Other Neuro-Skeletal Anomalies | 김정현 |
| 2014 | | Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome. | 손영배, 정선용 |
| 2011 | | Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. | 김옥화 |
| 2013 | | Is craniofacial asymmetry progressive in untreated congenital muscular torticollis? | 박명철, 이일재, 임신영 |
| 2015 | | Isolated patchy heterochromia of the scalp hair. | 김유찬, 손성향, 손영배 |
| 2010 | | Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. | 고정민, 배기수 |
| 2021 | | Posterior lung herniation in pulmonary agenesis and aplasia: Chest radiograph and cross-sectional imaging correlation | 박지은 |
| 2004 | | Risk factor for extrahepatic bile duct cancer in patients with anomalous pancreaticobiliary ductal union. | 김명욱, 김욱환, 김진홍, 김홍, 유병무, 이국종, 정용식 |
| 2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type. | 김옥화 |
| 1998 | | Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations. | 김옥화, 서정호, 유호민 |
