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Showing results 2 to 29 of 29

Issue DateTitleAuthor(s)
2018-03Analysis of ATXN2 trinucleotide repeats in Korean patients with amyotrophic lateral sclerosis김영은
2020-01Analysis of dementia-related gene variants in APOE ε4 noncarrying Korean patients with early-onset Alzheimer's disease.김영은
2018-06Analysis of frontotemporal dementia, amyotrophic lateral sclerosis, and other dementia-related genes in 107 Korean patients with frontotemporal dementia김영은
2020-10ANXA11 Mutations in ALS Cause Dysregulation of Calcium Homeostasis and Stress Granule Dynamics김영은
2017-05Carrier frequency of Wilson's disease in the Korean population: a DNA-based approach김영은
2019-09Challenges and Considerations in Sequence Variant Interpretation for Mendelian Disorders김영은
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
2021-02Comparison of Longitudinal Changes of Cerebral Small Vessel Disease Markers and Cognitive Function Between Subcortical Vascular Mild Cognitive Impairment With and Without NOTCH3 Variant: A 5-Year Follow-Up Study김영은
2020-08Distribution and clinical impact of apolipoprotein E4 in subjective memory impairment and early mild cognitive impairment김영은
2016-11Genetic and Functional Analysis of TBK1 Variants in Korean Patients with Sporadic Amyotrophic Lateral Sclerosis김영은
2021-02Hereditary Frontotemporal Dementia Linked to the Pathogenic p.L266V Variant of the MAPT Gene in Korea김영은
2016-04Identification and characterization of NF1 splicing mutations in Korean patients with neurofibromatosis type 1김영은
2017-02Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors김영은
2020-01Implementation of Complementary Model using Optimal Combination of Hematological Parameters for Sepsis Screening in Patients with Fever김영은
2016-11Importance of Specimen Type and Quality in Diagnosing Middle East Respiratory Syndrome김영은
2020-03Mass Cytometry and Single-Cell RNA-seq Profiling of the Heterogeneity in Human Peripheral Blood Mononuclear Cells interacting with Silver Nanoparticles김영은
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
2020-02PSEN1 variants in Korean patients with clinically suspicious early-onset familial Alzheimer’s disease김영은
2019-09A Rare Case of Primary Myelofibrosis With a Solitary 1q Triplication김영은
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
2008-02국내 은행들의 운영리스크 측정과 관리방안에 관한 연구김영은
2024학교 미술수업에서 에듀테크 활용에 대한 중등 미술교사의 경험 탐구김영은
2010-08伯夷論의 傳統과 朴趾源의 伯夷論 硏究김영은

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