关注
Da Eun Nam
Da Eun Nam
在 smail.kongju.ac.kr 的电子邮件经过验证
标题
引用次数
引用次数
年份
Identification of genetic causes of inherited peripheral neuropathies by targeted gene panel sequencing
SH Nam, YB Hong, YS Hyun, G Kwak, SH Hwang, BO Choi, KW Chung
Molecules and cells 39 (5), 382-388, 2016
822016
Identification of FASTKD2 compound heterozygous mutations as the underlying cause of autosomal recessive MELAS-like syndrome
DH Yoo, DE Nam, YC Choi, SS Choi, JW Kim, BO Choi, KW Chung
Mitochondrion 35, 54-58, 2017
462017
Wide phenotypic spectrum in axonal Charcot–Marie–tooth neuropathy type 2 patients with KIF5A mutations
DE Nam, DH Yoo, SS Choi, BO Choi, KW Chung
Genes & genomics 40 (1), 77-84, 2018
302018
Association of miR-149 polymorphism with onset age and severity in Charcot–Marie–Tooth disease type 1A
SH Nam, S Kanwal, DE Nam, MH Lee, TH Kang, SC Jung, BO Choi, ...
Neuromuscular Disorders 28 (6), 502-507, 2018
252018
Alanyl-tRNA synthetase 1 (AARS1) gene mutation in a family with intermediate Charcot-Marie-Tooth neuropathy
AJ Lee, DE Nam, YJ Choi, SH Nam, BO Choi, KW Chung
Genes & genomics 42 (6), 663-672, 2020
222020
BAG3 mutation in a patient with atypical phenotypes of myofibrillar myopathy and Charcot–Marie–Tooth disease
SJ Kim, SH Nam, S Kanwal, DE Nam, DH Yoo, JH Chae, YL Suh, ...
Genes & genomics 40 (12), 1269-1277, 2018
192018
Axonal Charcot‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3′ UTR in NEFH
DE Nam, SC Jung, DH Yoo, SS Choi, SY Seo, GH Kim, SJ Kim, SH Nam, ...
Journal of the Peripheral Nervous System 22 (3), 200-207, 2017
182017
Small heat shock protein B3 (HSPB3) mutation in an axonal Charcot‐Marie‐Tooth disease family
DE Nam, SH Nam, AJ Lee, YB Hong, BO Choi, KW Chung
Journal of the Peripheral Nervous System 23 (1), 60-66, 2018
152018
Clinical characterization and genetic analysis of Korean patients with X‐linked Charcot‐Marie‐Tooth disease type 1
YB Hong, JM Park, JS Yu, DH Yoo, DE Nam, HJ Park, JS Lee, SH Hwang, ...
Journal of the Peripheral Nervous System 22 (3), 172-181, 2017
142017
Homozygous mutations in Pakistani consanguineous families with prelingual nonsyndromic hearing loss
HR Park, S Kanwal, SO Lim, DE Nam, YJ Choi, KW Chung
Molecular Biology Reports 47 (12), 9979-9985, 2020
132020
Paternal gender specificity and mild phenotypes in Charcot–Marie–Tooth type 1A patients with de novo 17p12 rearrangements
AJ Lee, DE Nam, YJ Choi, SW Noh, SH Nam, HJ Lee, SJ Kim, GJ Song, ...
Molecular Genetics & Genomic Medicine 8 (9), e1380, 2020
122020
Peripheral myelin protein 22 gene mutations in charcot-marie-tooth disease type 1E patients
NY Jung, HM Kwon, DE Nam, N Tamanna, AJ Lee, SB Kim, BO Choi, ...
Genes 13 (7), 1219, 2022
112022
Genetic authentication of cultivars with flower-variant types using SSR markers in spring orchid, Cymbidium goeringii
HJ Lee, HR Park, AJ Lee, DE Nam, DG Lee, Y Do, KW Chung
Horticulture, Environment, and Biotechnology 61, 577-590, 2020
102020
Variants of aminoacyl‐tRNA synthetase genes in Charcot‐Marie‐Tooth disease: A Korean cohort study
DE Nam, JH Park, CE Park, NY Jung, SH Nam, HM Kwon, HS Kim, ...
Journal of the Peripheral Nervous System 27 (1), 38-49, 2022
82022
Clinical and Neuroimaging Features in Charcot–Marie–Tooth Patients with GNB4 Mutations
HM Kwon, HS Kim, SB Kim, JH Park, DE Nam, AJ Lee, SH Nam, S Hwang, ...
Life 11 (6), 494, 2021
72021
INF2 mutations in patients with a broad phenotypic spectrum of Charcot‐Marie‐Tooth disease and focal segmental glomerulosclerosis
JH Park, HM Kwon, DE Nam, HJ Kim, SH Nam, SB Kim, BO Choi, ...
Journal of the Peripheral Nervous System 28 (1), 108-118, 2023
42023
Genetic Diversity and Population Structure of the Spring Orchid Cymbidium goeringii in Korean Distant Islands
SW Noh, JK Park, JS Yu, DE Nam, Y Do, KW Chung
Diversity 12 (12), 486, 2020
42020
Y-chromosome haplogrouping for Asians using Y-SNP target sequencing
SS Choi, KH Park, TH Kang, KW Chung
Forensic Science International: Genetics Supplement Series 6, e235-e237, 2017
32017
Gene distribution in pediatric-onset inherited peripheral neuropathy: A single tertiary center in thailand
P Kulsirichawaroj, Y Suksangkharn, DE Nam, T Pho-Iam, C Limwongse, ...
Journal of Neuromuscular Diseases, 1-9, 2024
12024
Genetic Kinship and Discrimination between the Cultivars Consisting a Sister Cultivar Group in Spring Orchid Cymbidium goeringii
DE Nam, JS Yu, SW Noh, KS Lee, JH Hwang, DG Lee, KW Chung
Horticultural Science and Technology, 2021
12021
系统目前无法执行此操作,请稍后再试。
文章 1–20