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아주대학교 의학문헌정보센터
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Browsing "Medical Genetics" by Keyword : Molecular Sequence Data
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Showing results 3 to 9 of 9
Pub Year
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AJOU Author(s)
2015
Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene.
손영배
2012
Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency
김옥화
,
손영배
2014
First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
손영배
2013
Five novel mutations of GALNS in Korean patients with mucopolysaccharidosis IVA.
손영배
2010
Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension.
진현석
2010
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.
고정민
1998
Structurally abnormal type II collagen in a severe form of Kniest dysplasia caused by an exon 24 skipping mutation.
김현주
1
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아주대학교 의학문헌정보센터
