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Se Song Jang
Se Song Jang
Research Assistant Professor, Seoul National University Hospital
在 snuh.org 的电子邮件经过验证
标题
引用次数
引用次数
年份
MicroRNA expression profiles in gastric carcinogenesis
J Hwang, BH Min, J Jang, SY Kang, H Bae, SS Jang, JI Kim, KM Kim
Scientific reports 8 (1), 14393, 2018
862018
Dysregulated Wnt signalling and recurrent mutations of the tumour suppressor RNF43 in early gastric carcinogenesis
BH Min, J Hwang, NKD Kim, G Park, SY Kang, S Ahn, S Ahn, SY Ha, ...
The Journal of pathology 240 (3), 304-314, 2016
542016
Identifying pathogenic variants of monogenic diabetes using targeted panel sequencing in an east Asian population
SS Park, SS Jang, CH Ahn, JH Kim, HS Jung, YM Cho, YA Lee, CH Shin, ...
The Journal of Clinical Endocrinology & Metabolism 104 (9), 4188-4198, 2019
412019
Findings of a 1303 Korean whole-exome sequencing study
SH Kwak, J Chae, S Choi, MJ Kim, M Choi, JH Chae, E Cho, SS Jang, ...
Experimental & molecular medicine 49 (7), e356-e356, 2017
402017
Diagnostic yield of epilepsy panel testing in patients with seizure onset within the first year of life
SS Jang, SY Kim, H Kim, H Hwang, JH Chae, KJ Kim, JI Kim, BC Lim
Frontiers in neurology 10, 988, 2019
362019
Targeted linked-read sequencing for direct haplotype phasing of maternal DMD alleles: a practical and reliable method for noninvasive prenatal diagnosis
SS Jang, BC Lim, SK Yoo, JY Shin, KJ Kim, JS Seo, JI Kim, JH Chae
Scientific reports 8 (1), 8678, 2018
362018
FARS2 mutation and epilepsy: possible link with early-onset epileptic encephalopathy
JS Cho, SH Kim, HY Kim, T Chung, D Kim, S Jang, SB Lee, SK Yoo, ...
Epilepsy Research 129, 118-124, 2017
292017
Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men
KY Son, HY Son, J Chae, J Hwang, SS Jang, JM Yun, BL Cho, JH Park, ...
Lipids in health and disease 14 (1), 1-9, 2015
282015
Genetic diagnosis of infantile‐onset epilepsy in the clinic: Application of whole‐exome sequencing following epilepsy gene panel testing
SY Kim, SS Jang, H Kim, H Hwang, JE Choi, JH Chae, KJ Kim, BC Lim
Clinical genetics 99 (3), 418-424, 2021
242021
Collagen VI‐related myopathy: Expanding the clinical and genetic spectrum
SY Kim, WJ Kim, H Kim, SA Choi, JS Lee, A Cho, SS Jang, BC Lim, ...
Muscle & Nerve 58 (3), 381-388, 2018
232018
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
SY Kim, YK Shim, YJ Ko, S Park, SS Jang, BC Lim, KJ Kim, JH Chae
Orphanet journal of rare diseases 15, 1-6, 2020
192020
Genomic characterization of clonal evolution during oropharyngeal carcinogenesis driven by human papillomavirus 16
J Chae, WS Park, MJ Kim, SS Jang, D Hong, J Ryu, CH Ryu, JH Kim, ...
BMB reports 51 (11), 584, 2018
112018
Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY
SH Kwak, CE Powe, SS Jang, MJ Callahan, SN Bernstein, SM Lee, ...
The Journal of Clinical Endocrinology & Metabolism 106 (9), 2678-2689, 2021
102021
Dissecting the phenotypic and genetic spectrum of early childhood-onset generalized epilepsies
SY Kim, SS Jang, JI Kim, H Kim, H Hwang, JE Choi, JH Chae, KJ Kim, ...
Seizure 71, 222-228, 2019
92019
Whole genomic approach in mutation discovery of infantile spasms patients
S Lee, S Jang, JI Kim, JH Chae, KJ Kim, BC Lim
Frontiers in neurology 13, 944905, 2022
82022
Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases
S Park, SS Jang, S Lee, M Kim, H Sim, H Jeon, SE Hong, J Lee, J Lee, ...
Frontiers in Genetics 13, 990015, 2022
72022
Importance of early diagnosis in LMNA‐related muscular dystrophy for cardiac surveillance
SA Choi, A Cho, SY Kim, WJ Kim, YK Shim, JS Lee, SS Jang, BC Lim, ...
Muscle & Nerve 60 (6), 668-672, 2019
72019
Development of a common platform for the noninvasive prenatal diagnosis of X‐linked diseases
SS Jang, BC Lim, SK Yoo, JY Shin, JS Seo, D Hwang, KY Yoo, JH Chae, ...
Prenatal Diagnosis 38 (11), 835-840, 2018
72018
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder
S Lee, SS Jang, S Park, JG Yoon, SY Kim, BC Lim, JH Chae
Frontiers in Pediatrics 10, 960450, 2022
62022
A newly developed capture-based sequencing panel for genomic assay of lung cancer
SW Im, J Chae, SS Jang, J Choi, J Yun, S Cha, NJ Kwon, YK Jeon, ...
Genes & genomics 42, 751-759, 2020
52020
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