AJOU Open Repository: Browsing DSpace

BROWSE

AJOU Open Repository

Browsing by Ajou Author

김, 옥화 Not currently indexed

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

Author IDs

ORCID: -

ISNI: 000000046094154X

WOS: -

SCOPUS: -

Research areas

Co-Researcher

Showing results 1 to 20 of 48

This table browses all dspace content
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

1 2 3

License

Ajou University Medical Information & Media Center 164 Worldcup-ro Yeongtong-gu Suwon 16499 Korea / TEL : 031-219-5312
Copyright (c) Ajou University Medical Information & Media Center All Rights Reserved.
AJOU Open Repository는 국립중앙도서관 OAK 보급사업으로 구축되었습니다.

BROWSE

Browsing by Ajou Author

Author IDs

Browse