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김영은 프로필 사진

김영은

Kim, Young Eun

의과대학

진단검사의학교실

연도별 연구 활동 현황

자료유형

발행연도

2014 ~ 2026

2014 2026

언어

전체 77건 중 71번부터 77번까지의 결과를 표시합니다.

2017

Article

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis

2016

Article

Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease

Article

CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis

Article

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing

Article

Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

2015

Article

De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis

2014

Article

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy

상세 보기

김영은

자료유형

발행연도

키워드

언어

Genetic and functional analysis of TBK1 variants in Korean patients with sporadic amyotrophic lateral sclerosis

Patient fibroblasts-derived induced neurons demonstrate autonomous neuronal defects in adult-onset Krabbe disease

CLEC4C p.K210del variant causes impaired cell surface transport in plasmacytoid dendritic cells of amyotrophic lateral sclerosis

Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing

Directly converted patient-specific induced neurons mirror the neuropathology of FUS with disrupted nuclear localization in amyotrophic lateral sclerosis

De novo FUS mutations in 2 Korean patients with sporadic amyotrophic lateral sclerosis

Spectrum of NOTCH3 mutations in Korean patients with clinically suspicious cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy