Browsing "Medical Genetics" by Journal : Journal of Korean medical science

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Showing results 10 to 13 of 13

Pub YearTitleAuthor(s)
2012Reciprocal deletion and duplication of 17p11.2-11.2: Korean patients with Smith-Magenis syndrome and Potocki-Lupski syndrome손영배, 임신영
2016Skin 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 Hybridization손영배
2015The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses.손영배, 임신영
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
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