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김, 옥화 Not currently indexed
[School of Medicine / Graduate School of Medicine] - [Radiology]

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Pub YearTitleAJOU Author(s)
2014Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.김옥화
2014Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy김옥화
2013An interstitial, apparently-balanced chromosomal insertion in the etiology of Langer-Giedion syndrome in an Asian family.김옥화
2013Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.김옥화
2013Identification of a GDF5 mutation in a Korean patient with brachydactyly type C without foot involvement.김옥화
2013Clinical 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
2012A Case with Spondyloepiphyseal Dysplasia Tarda with TRAPPC2 Mutation김옥화
2012Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency김옥화, 손영배
2012Metaphyseal chondromatosis combined with D-2-hydroxyglutaric aciduria in four patients김옥화
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2012A single recurrent mutation in the 5'-UTR of IFITM5 causes osteogenesis imperfecta type V김옥화
2012TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients김옥화
2011Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.김옥화
2011Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.김옥화
2011Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).김옥화
2011Axial spondylometaphyseal dysplasia: additional reports.김옥화
2011Effect of zoledronic acid on acro-osteolysis and osteoporosis in a patient with Hajdu-Cheney syndrome.김옥화
2011A founder mutation of CANT1 common in Korean and Japanese Desbuquois dysplasia.김옥화
2011Identification of signal peptide domain SOST mutations in autosomal dominant craniodiaphyseal dysplasia.김옥화
2011Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.김옥화
2011Comparison of clinico-radiological features between congenital cystic neuroblastoma and neonatal adrenal hemorrhagic pseudocyst.김옥화
2011CANT1 mutation is also responsible for Desbuquois dysplasia, type 2 and Kim variant.김옥화
2010A Case Report of Hajdu-Cheney Syndrome김옥화, 안소연, 정윤석
2010Kidney Length in Normal Korean Children김옥화
2010A novel homozygous MMP2 mutation in a patient with Torg-Winchester syndrome.김옥화, 김현주, 정선용
2010Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.김옥화
2010A dominant mesomelic dysplasia associated with a 1.0-Mb microduplication of HOXD gene cluster at 2q31.1.김옥화
2010Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.김옥화
2010TRPV4-pathy, a novel channelopathy affecting diverse systems.김옥화
2010Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.김옥화
2010A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.김옥화
2009A distinct form of spondyloepimetaphyseal dysplasia with joint laxity (SEMDJL)-leptodactylic type: radiological characteristics in seven new patients.김옥화
2009Atypical teratoid/rhabdoid tumors of the central nervous system: imaging and clinical findings in 16 children.김옥화
2007Osteopathia Striata with Cranial Sclerosis: Report of Two Cases김옥화
2007Imaging features of gastrointestinal tract duplications in infants and children: from oesophagus to rectum.김옥화
2007Achondroplasia and enchondromatosis: report of three boys.김옥화
2003Ischiospinal dysostosis with cystic kidney disease: report of two cases.김옥화
2000A qualitative analysis of brain SPECT for prognostication of gross motor development in children with cerebral palsy.김옥화, 박찬희, 이일영, 임신영
2000US in the diagnosis of pediatric chest diseases.김옥화, 서정호
1998Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations.김옥화, 서정호, 유호민
1997Atypical 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
1997Intracranial and extracranial MR angiography in Menkes disease.김옥화, 서정호
1997Axial spondylometaphyseal dysplasia.김옥화
1997MR of childhood metachromatic leukodystrophy.김옥화
1996Correlation of CT Findings in Renal Cell Carcinoma with Nuclear Grading and Cell Type김옥화, 문창현, 서정호
1996Acute Myocardial Infarction: Gd-DTPA Enhanced Magnetic Resonance Imaging김선용, 김옥화, 김한수, 문창현, 박경주, 서정호, 왕희정, 이영돈, 이영주, 이철주, 최병일, 탁승제
1995Imaging of the choledochal cyst.김옥화
1994Malignant fibrous histiocytoma of primary omental origin in an infant.김옥화
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