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아주대학교 의학문헌정보센터
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Showing results 7 to 15 of 15
Pub Year
Title
Author(s)
2014
First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1.
손영배
2013
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
정윤석
,
진현석
2011
Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach.
김현주
,
정선용
2014
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
손영배
2010
Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.
고정민
2007
Mitochondrial fission and fusion mediators, hFis1 and OPA1, modulate cellular senescence.
김수정
,
정선용
,
조혜성
2012
Mutation spectrum of the TYR and SLC45A2 genes in patients with oculocutaneous albinism
김현주
,
정선용
2010
Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension.
진현석
2010
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.
고정민
,
배기수
1
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아주대학교 의학문헌정보센터
