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김, 옥화 Not currently indexed

[School of Medicine / Graduate School of Medicine] - [Radiology]

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ISNI: 000000046094154X

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Showing results 1 to 48 of 48

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

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