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아주대학교 의학문헌정보센터
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Browsing "School of Medicine / Graduate School of Medicine" by AJOU Author : 김옥화
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Showing results 33 to 46 of 46
Pub Year
Title
Author(s)
2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
김옥화
2013
Osteogenesis imperfecta type V: clinical and radiographic manifestations in mutation confirmed patients.
김옥화
2007
Osteopathia Striata with Cranial Sclerosis: Report of Two Cases
김옥화
2014
Overgrowth syndrome associated with a gain-of-function mutation of the natriuretic peptide receptor 2 (NPR2) gene.
김옥화
2012
PAPSS2 mutations cause autosomal recessive brachyolmia
김옥화
2011
Pulmonary manifestations in Proteus syndrome: pulmonary varicosities and bullous lung disease.
김옥화
2011
Revisit of multiple epiphyseal dysplasia: ethnic difference in genotypes and comparison of radiographic features linked to the COMP and MATN3 genes.
김옥화
2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
김옥화
2012
TRPV4-pathy manifesting both skeletal dysplasia and peripheral neuropathy: a report of three patients
김옥화
2010
TRPV4-pathy, a novel channelopathy affecting diverse systems.
김옥화
2000
US in the diagnosis of pediatric chest diseases.
김옥화
,
서정호
2011
Whole-exome sequencing detects somatic mutations of IDH1 in metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria (MC-HGA).
김옥화
2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
김옥화
1998
Wyburn-Mason syndrome: an unusual presentation of bilateral orbital and unilateral brain arteriovenous malformations.
김옥화
,
서정호
,
유호민
1
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아주대학교 의학문헌정보센터