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아주대학교 의학문헌정보센터
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Showing results 5 to 9 of 9
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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.
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아주대학교 의학문헌정보센터
