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자료 필터
자료유형
발행연도
2019 ~ 2026
2019 2026
키워드
언어
전체 17건 중 11번부터 17번까지의 결과를 표시합니다.
2023
Conference
Comprehensive Genetic Analysis of Undiagnosed Hereditary Cancer Syndromes using Whole Genome Sequencing
- 2023-11-17
Article
Carrier frequency and incidence of aromatic L-amino acid decarboxylase deficiency: a gnomAD-based study
- Park, Jong Eun ;
- Lee, Taeheon ;
- Ha, Kyeongsu ;
- Cho, Eun Hye ;
- Ki, Chang-Seok
- 2023-11
- Pediatric Research
- SPRINGERNATURE
Conference
Carrier Frequency and Incidence Estimation of Alpha-mannosidosis by Genome Aggregation Database-based Analysis
- 2023-07-17
Conference
Carrier Frequency and Incidence of Aromatic L-Amino Acid Decarboxylase Deficiency Deficiency: A gnomAD-based Study
- 2023-06-19
2019
Article
Characterization of a novel LQT3 variant with a selective efficacy of mexiletine treatment
- Kim Hyun-Ji ;
- Kim Bok-Geon ;
- Park, Jong Eun ;
- Ki, Chang-Seok ;
- Huh, June ;
- 외 3명
- 2019-09
- Scientific Reports
- Nature Publishing Group
Article
Dopa Responsive Parkinsonism in an Early Onset Alzheimer's Disease Patient with a Presenilin 1 Mutation (A434T)
- Jo, Hyunjin ;
- Kim, Minkyeong ;
- Park, Seongbeom ;
- Park, Jong Eun ;
- Cho, Soo Hyun ;
- 외 8명
- 2019-06
- Journal of Alzheimer's Disease
- IOS PRESS