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자료 필터
자료유형
발행연도
2014 ~ 2026
2014 2026
키워드
언어
전체 76건 중 1번부터 10번까지의 결과를 표시합니다.
2026
Article
Functional impact of the ATP1A3-p.A813V variant: insights into a calcium-driven hyperexcitability cascade in rapid-onset dystonia-Parkinsonism
- Lim, Su Min ;
- Kim, Suhyun ;
- Park, Jinseok ;
- Kim, Young-Eun ;
- Na, Ok Cho ;
- ... Oh, Ki-Wook ;
- ... Kim, Seung Hyun ;
- 외 5명
- 2026-05
- Journal of Translational Medicine
- BMC
Article
Applying National Whole-genome Sequencing Findings for Rare Diseases in Clinical Practice: The Imperative of a Multidisciplinary Approach
- Park, Kyung Sun ;
- Shin, Sunghwan ;
- Park, Jong-Ho ;
- Kim, Young-Eun ;
- Kwon, Won Kyung ;
- 외 11명
- 2026-01
- Annals of Laboratory Medicine
- KOREAN SOC LABORATORY MEDICINE
2025
Conference
Rare Variant Burden Analysis for Gene Discovery in Amyotrophic Lateral Sclerosis
- 2025-12-11
Article
The Impact of OXTR, COMT, and GRIN2B Polymorphisms on Brain Development in Preterm Infants
- Kim, Eon Yak ;
- Kim, Hyuna ;
- Jang, Yong Hun ;
- Hwang, Woochang ;
- Hur, Junho K. ;
- ... Kim, Young-Eun ;
- ... Lee, Hyun Ju ;
- 외 2명
- 2025-11
- JOURNAL OF CLINICAL MEDICINE
- MDPI
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