| 2014 | | Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
American journal of medical genetics. Part A, 164A(1). : 156-163, 2014 | 김옥화 |
| 2014 | | Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy
American journal of human genetics, 94(1). : 105-112, 2014 | 김옥화 |
| 2013 | | An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.
European journal of medical genetics, 56(10). : 561-565, 2013 | 김옥화 |
| 2013 | | Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
American journal of medical genetics. Part A, 161A(8). : 1972-1979, 2013 | 김옥화 |
| 2013 | | Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.
Annals of laboratory medicine, 33(2). : 150-152, 2013 | 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.
American journal of medical genetics. Part A, 161A(3). : 518-526, 2013 | 김옥화, 정윤석 |
| 2012 | | A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation
Journal of genetic medicine, 9(1). : 31-34, 2012 | 김옥화 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency
Annals of clinical and laboratory science, 42(3). : 307-312, 2012 | 김옥화, 손영배 |
| 2012 | | Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients
Skeletal radiology, 41(11). : 1479-1487, 2012 | 김옥화 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia
Journal of medical genetics, 49(8). : 533-538, 2012 | 김옥화 |
| 2012 | | A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V
American journal of human genetics, 91(2). : 343-348, 2012 | 김옥화 |
| 2012 | | TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients
American journal of medical genetics. Part A, 158A(4). : 795-802, 2012 | 김옥화 |
| 2011 | | Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
American journal of human genetics, 89(6). : 760-766, 2011 | 김옥화 |
| 2011 | | Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
American journal of medical genetics. Part A, 155A(11). : 2669-2680, 2011 | 김옥화 |
| 2011 | | Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
American journal of medical genetics. Part A, 155A(11). : 2609-2616, 2011 | 김옥화 |
| 2011 | | Axial spondylometaphyseal dysplasia: additional reports.
American journal of medical genetics. Part A, 155A(10). : 2521-2528, 2011 | 김옥화 |
| 2011 | | Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome.
Yonsei medical journal, 52(3). : 543-546, 2011 | 김옥화 |
| 2011 | | A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.
Journal of human genetics, 56(5). : 398-400, 2011 | 김옥화 |
| 2011 | | Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.
Human genetics, 129(5). : 497-502, 2011 | 김옥화 |
| 2011 | | Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.
American journal of medical genetics. Part A, 155A(4). : 865-869, 2011 | 김옥화 |
| 2011 | | Comparison of clinico-radiological features between congenital cystic neuroblastoma and neonatal adrenal hemorrhagic pseudocyst.
Korean journal of radiology, 12(1). : 52-58, 2011 | 김옥화 |
| 2011 | | CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.
Journal of medical genetics, 48(1). : 32-37, 2011 | 김옥화 |
| 2010 | | A Case Report of Hajdu-Cheney Syndrome
Endocrinology and metabolism (Seoul, Korea), 25(2). : 152-156, 2010 | 김옥화, 안소연, 정윤석 |
| 2010 | | Kidney Length in Normal Korean Children
Journal of Korean Society of Ultrasound in Medicine, 29(3). : 181-188, 2010 | 김옥화 |
| 2010 | | A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.
Journal of human genetics, 55(11). : 764-766, 2010 | 김옥화, 김현주, 정선용 |
| 2010 | | Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
Journal of medical genetics, 47(10). : 704-709, 2010 | 김옥화 |
| 2010 | | A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.
Journal of medical genetics, 47(9). : 638-639, 2010 | 김옥화 |
| 2010 | | Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
Journal of Korean medical science, 25(7). : 1105-1108, 2010 | 김옥화 |
| 2010 | | TRPV4-pathy, a novel channelopathy affecting diverse systems.
Journal of human genetics, 55(7). : 400-402, 2010 | 김옥화 |
| 2010 | | Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
American journal of medical genetics. Part A, 152A(6). : 1443-1449, 2010 | 김옥화 |
| 2010 | | A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
American journal of medical genetics. Part A, 152A(4). : 875-885, 2010 | 김옥화 |
| 2009 | | A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.
Skeletal radiology, 38(8). : 803-811, 2009 | 김옥화 |
| 2009 | | Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children.
Clinical radiology, 64(3). : 256-264, 2009 | 김옥화 |
| 2007 | | Osteopathia Striata with Cranial Sclerosis: Report of Two Cases
Journal of the Korean Radiological Society, 56(3). : 293-296, 2007 | 김옥화 |
| 2007 | | Imaging features of gastrointestinal tract duplications in infants and children: from oesophagus to rectum.
Pediatric radiology, 37(7). : 691-699, 2007 | 김옥화 |
| 2007 | | Achondroplasia and enchondromatosis: report of three boys.
Skeletal radiology, 36(Suppl 1). : S29-S33, 2007 | 김옥화 |
| 2003 | | Ischiospinal dysostosis with cystic kidney disease: report of two cases.
Clinical dysmorphology, 12(2). : 101-104, 2003 | 김옥화 |
| 2000 | | A qualitative analysis of brain SPECT for prognostication of gross motor development in children with cerebral palsy.
Clinical nuclear medicine, 25(4). : 268-272, 2000 | 김옥화, 박찬희, 이일영, 임신영 |
| 2000 | | US in the diagnosis of pediatric chest diseases.
Radiographics, 20(3). : 653-671, 2000 | 김옥화, 서정호 |
| 1998 | | Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations.
Pediatric radiology, 28(3). : 161-161, 1998 | 김옥화, 서정호, 유호민 |
| 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.
American journal of medical genetics, 73(2). : 132-138, 1997 | 김옥화 |
| 1997 | | Intracranial and extracranial MR angiography in Menkes disease.
Pediatric radiology, 27(10). : 782-784, 1997 | 김옥화, 서정호 |
| 1997 | | Axial spondylometaphyseal dysplasia.
European journal of pediatrics, 156(8). : 627-630, 1997 | 김옥화 |
| 1997 | | MR of childhood metachromatic leukodystrophy.
AJNR. American journal of neuroradiology, 18(4). : 733-738, 1997 | 김옥화 |
| 1996 | | Correlation of CT Findings in Renal Cell Carcinoma with Nuclear Grading and Cell Type
Ajou medical journal, 1(2). : 491-498, 1996 | 김옥화, 문창현, 서정호 |
| 1996 | | Acute Myocardial Infarction: Gd-DTPA Enhanced Magnetic Resonance Imaging
Ajou medical journal, 1(1). : 301-309, 1996 | 김선용, 김옥화, 김한수, 문창현, 박경주, 서정호, 왕희정, 이영돈, 이영주, 이철주, 최병일, 탁승제 |
| 1995 | | Imaging of the choledochal cyst.
Radiographics, 15(1). : 69-88, 1995 | 김옥화 |
| 1994 | | Malignant fibrous histiocytoma of primary omental origin in an infant.
Pediatric radiology, 24(4). : 285-287, 1994 | 김옥화 |
