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

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Showing results 1 to 20 of 46

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Pub YearTitleAuthor(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
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