Browsing by AJOU Author : 김옥화

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Showing results 1 to 46 of 46

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