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아주대학교 의학문헌정보센터
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Browsing by Keyword : Osteochondrodysplasias
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Showing results 11 to 16 of 16
Pub Year
Title
Author(s)
2010
Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.
김옥화
2012
PAPSS2 mutations cause autosomal recessive brachyolmia
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
1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
김현주
2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
김옥화
1
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아주대학교 의학문헌정보센터
