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Showing results 11 to 16 of 16

Pub YearTitleAJOU Author(s)
2005Mutation analysis of the MCM gene in Korean patients with MMA.김성환, 박준은, 정조원, 황진순
2012Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease이용희
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2012The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia박준은
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
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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