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아주대학교 의학문헌정보센터
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Showing results 21 to 29 of 29
Pub Year
Title
Author(s)
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
2016
Pseudo-dominant inheritance in Wilson's disease
윤정한
2014
Similar clinical characteristics of familial and sporadic inflammatory bowel disease in South Korea.
정숙희
2010
Spondylo-epiphyseal dysplasia, Maroteaux type (pseudo-Morquio syndrome type 2), and parastremmatic dysplasia are caused by TRPV4 mutations.
김옥화
2000
The first successful prenatal diagnosis on a Korean family with citrullinemia.
한시훈
2005
Three novel VHL germline mutations in Korean patients with von Hippel-Lindau disease and pheochromocytomas.
김대중
,
이관우
2014
Whole-exome sequencing identifies a novel genotype-phenotype correlation in the entactin domain of the known deafness gene TECTA.
정주용
2011
Whole-exome sequencing identifies mutations of KIF22 in spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type.
김옥화
1
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아주대학교 의학문헌정보센터
