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Showing results 1 to 11 of 11

Issue DateTitleAuthor(s)
2016-05CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis김영은
2017-01Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis김영은
2016-11Genetic and Functional Analysis of TBK1 Variants in Korean Patients with Sporadic Amyotrophic Lateral Sclerosis김영은
2016-04Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1김영은
2016-11Importance of Specimen Type and Quality in Diagnosing Middle East Respiratory Syndrome김영은
2013-04A novel mutation (c.200T˃C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB김영은
2014-10De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis김영은
2016-11Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease김영은
2013-10Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy김영은
2013-09A Survey of Intestinal Parasite Infection during a 10-Year Period (2003-2012)김영은
2016-08TERT promoter mutations and long-term survival in patients with thyroid cancer김영은