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아주대학교 의학문헌정보센터
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Browsing "Medical Genetics" by Journal : Journal of Korean medical science
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Showing results 4 to 13 of 13
Pub Year
Title
Author(s)
2013
Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.
정윤석
,
진현석
2010
Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
김유찬
,
김현주
,
정선용
,
정연훈
2014
Impact of enzyme replacement therapy on linear growth in Korean patients with mucopolysaccharidosis type II (Hunter syndrome).
손영배
2010
Loss of Y chromosome in the malignant peripheral nerve sheet tumor of a patient with Neurofibromatosis type 1.
김현주
,
정선용
2013
Osteogenesis imperfecta Type VI with severe bony deformities caused by novel compound heterozygous mutations in SERPINF1.
손영배
2010
Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.
고정민
,
배기수
2012
Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome
손영배
,
임신영
2016
Skin Barrier Function Is Not Impaired and Kallikrein 7 Gene Polymorphism Is Frequently Observed in Korean X-linked Ichthyosis Patients Diagnosed by Fluorescence in Situ Hybridization and Array Comparative Genomic Hybridization
손영배
2015
The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.
손영배
,
임신영
2012
Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence
손영배
1
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아주대학교 의학문헌정보센터