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아주대학교 의학문헌정보센터
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Showing results 1 to 5 of 5
Pub Year
Title
AJOU Author(s)
2010
Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene.
김옥화
2021
Cortical thickness is differently associated with ALDH2 rs671 polymorphism according to level of amyloid deposition
노현웅
,
박범희
,
손상준
,
정재연
,
최진욱
,
하재호
,
홍창형
2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
김옥화
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
1
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아주대학교 의학문헌정보센터
