| 2011 | | CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant. | 김옥화 |
| 2013 | | Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome. | 김옥화, 정윤석 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
| 2011 | | Comparison of clinico-radiological features between congenital cystic neuroblastoma and neonatal adrenal hemorrhagic pseudocyst. | 김옥화 |
| 1996 | | Correlation of CT Findings in Renal Cell Carcinoma with Nuclear Grading and Cell Type | 김옥화, 문창현, 서정호 |
| 2011 | | Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome. | 김옥화 |
| 2013 | | Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement. | 김옥화 |
| 2011 | | Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia. | 김옥화 |
| 2007 | | Imaging features of gastrointestinal tract duplications in infants and children: from oesophagus to rectum. | 김옥화 |
| 1995 | | Imaging of the choledochal cyst. | 김옥화 |
| 1997 | | Intracranial and extracranial MR angiography in Menkes disease. | 김옥화, 서정호 |
| 2003 | | Ischiospinal dysostosis with cystic kidney disease: report of two cases. | 김옥화 |
| 2010 | | Kidney Length in Normal Korean Children | 김옥화 |
| 1994 | | Malignant fibrous histiocytoma of primary omental origin in an infant. | 김옥화 |
| 2012 | | Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients | 김옥화 |
| 1997 | | MR of childhood metachromatic leukodystrophy. | 김옥화 |
| 2014 | | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy | 김옥화 |
| 2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family. | 김옥화 |
| 2013 | | Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients. | 김옥화 |
| 2007 | | Osteopathia Striata with Cranial Sclerosis: Report of Two Cases | 김옥화 |
| 2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene. | 김옥화 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
| 2011 | | Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease. | 김옥화 |
| 2011 | | Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes. | 김옥화 |
| 2010 | | Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations. | 김옥화 |
| 2012 | | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients | 김옥화 |
| 2010 | | TRPV4-pathy, a novel channelopathy affecting diverse systems. | 김옥화 |
| 2000 | | US in the diagnosis of pediatric chest diseases. | 김옥화, 서정호 |
| 2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA). | 김옥화 |
| 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 |
