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Showing results 1 to 9 of 9

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
2014	Clinical and genetic analysis of MAPT, GRN, and C9orf72 genes in Korean patients with frontotemporal dementia	정지향	Article
2013	Effects of APOE ε4 on brain amyloid, lacunar infarcts, and white matter lesions: Astudy among patients with subcortical vascular cognitive impairment	김건하	Article
2009	Hemoglobin yamagata: Hemoglobin variant detected by HbA1c test	홍기숙; 이미애; 성연아; 정화순	Article
2012	Identification of 11 novel mutations in 49 Korean patients with mucopolysaccharidosis type II	여성희	Article
2007	Mutations in PRPS1, which encodes the phosphoribosyl pyrophosphate synthetase enzyme critical for nucleotide biosynthesis, cause hereditary peripheral neuropathy with hearing loss and optic neuropathy (CMTX5)	최병옥	Article
2010	The common NF-κB essential modulator (NEMO) gene rearrangement in Korean patients with incontinentia pigmenti	박은애	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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