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아주대학교 의학문헌정보센터
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김, 옥화
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[School of Medicine / Graduate School of Medicine] - [Radiology]
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000000046094154X
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(48)
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Showing results 1 to 20 of 48
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Pub Year
Title
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
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아주대학교 의학문헌정보센터