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아주대학교 의학문헌정보센터
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Showing results 16 to 29 of 29
Pub Year
Title
AJOU Author(s)
2017
Makorin ring finger 3 gene analysis in Koreans with familial precocious puberty
이해상
2016
Multiple Endocrine Neoplasia Type 1 Presenting as Hypoglycemia due to Insulinoma
이해상
,
황진순
2018
Mutational and phenotypic spectrum of OTOF-related auditory neuropathy in Koreans: eliciting reciprocal interaction between bench and clinics
장정훈
,
정연훈
2014
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy
김옥화
2010
Non-type I cystinuria associated with mental retardation and ataxia in a Korean boy with a new missence mutation(G173R) in the SLC7A9 gene.
김성환
,
황진순
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