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Showing results 1 to 6 of 6

Issue Date	Title	Author(s)	Type
2012	A Korean patient with Morquio B disease with a novel c.13_14insA mutation in the GLB1 gene	여성희	Article
2010	A mother and daughter with the p.R443X mutation of mucopolysaccharidosis type II: Genotype and phenotype analysis	여성희	Article
2011	A polymorphism in the growth hormone receptor is associated with height in children with Prader-Willi syndrome	여성희	Article
2012	Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II	여성희	Article
2011	Mutations of ACADS gene associated with short-chain acyl-coenzyme A dehydrogenase deficiency	여성희	Article
2012	Two novel insulin receptor gene mutations in a patient with rabson-mendenhall syndrome: The first Korean case confirmed by biochemical, and molecular evidence	여성희	Article

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