Browsing by AJOU Author : 김옥화

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Showing results 39 to 46 of 46

Pub YearTitleAuthor(s)
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.김옥화, 서정호
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.김옥화, 서정호, 유호민
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