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자료 필터
자료유형
발행연도
2023 ~ 2025
2023 2025
키워드
언어
전체 14건 중 1번부터 10번까지의 결과를 표시합니다.
2025
Article
Identification of novel MYO19 variants in neonatal hypertrophic cardiomyopathy: a familial analysis revealing oligogenic contributors to disease severity
- Cho, Hye-won ;
- Kim, Hyeseon ;
- Kim, Jeong-min ;
- Shin, Dongmun ;
- Kim, Oc-hee ;
- ... Jo, Heui-seung ;
- 외 6명
- 2025-12
- Orphanet Journal of Rare Diseases
- BioMed Central Ltd
Conference
Building National Neonatal Registries: Lesson from the Korean Neonatal Network
- 2025-11-07
- 대한민국
Conference
급성 중증 신생아 희귀질환 진단을 위한 국내 다기관 Rapid Trio-WGS 프로토콜 구축
- 조희승 ;
- 추수정 ;
- 김현호 ;
- 변신연 ;
- 성태정 ;
- 외 7명
- 2025-11-07
- 대한민국
Article
Uncovering potential causal genes for undiagnosed congenital anomalies using an in-house pipeline for trio-based whole-genome sequencing
- Kim, Jeong-Min ;
- Cho, Hye-Won ;
- Shin, Dong Mun ;
- Kim, Oc-Hee ;
- Kim, Jihyun ;
- ... Jo, Heui Seung ;
- 외 8명
- 2025-01-06
- Human Genomics
- BMC
2024
Conference
Interpretable Machine Learning Prediction Model for Prenatal Ambient Air Pollution Exposure and Its Impact on Small-for Gestational-Age Births: The Korean CHildren's ENvironmental health Study (Ko-CHENS)
- 2024-12-09
- 미국
Article
Sleep-wake cycle on amplitude-integrated EEG and neuroimage outcomes in newborns
- Han, T. H. ;
- Chae, K. Y. ;
- Jo, H. S. ;
- Rhie, S.
- 2024-11
- Epilepsia
- WILEY
Article
Diagnostic Utility of Whole Genome Sequencing After Negative Karyotyping/Chromosomal Microarray in Infants Born With Multiple Congenital Anomalies
- Yang, Misun ;
- Kim, Jee Ah ;
- Jo, Heui Seung ;
- Park, Jong-Ho ;
- Ahn, So Yoon ;
- 외 8명
- 2024-09-23
- Journal of Korean Medical Science
- KOREAN ACAD MEDICAL SCIENCES
Article
Analyses of genetic variants for Congenital Anomalies through whole genome sequencing in Korean patients
- Kim, Jeong-Min ;
- Cho, Hye-Won ;
- Shin, Dong Mun ;
- Kim, Jihyun ;
- An, Joon-Yong ;
- ... Jo, Heui Seung ;
- 외 3명
- 2024-01
- European Journal of Human Genetics
- SPRINGERNATURE