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자료 필터
자료유형
발행연도
2023 ~ 2025
2023 2025
키워드
언어
전체 11건 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
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
2023
Conference
Application of Machine Learning for Growth Failure Classification in Preterm Infants
- 2023-12-10
- 미국
Article
Optimal Protocols and Management of Clinical and Genomic Data Collection to Assist in the Early Diagnosis and Treatment of Multiple Congenital Anomalies
- Jo, Heui Seung ;
- Yang, Misun ;
- Ahn, So Yoon ;
- Sung, Se In ;
- Park, Won Soon ;
- 외 2명
- 2023-10
- CHILDREN-BASEL
- MDPI
Article
Required biological time for lung maturation and duration of invasive ventilation: a Korean cohort study of very low birth weight infants
- Jo, Heui Seung ;
- Lim, Myoung Nam ;
- Cho, Sung-Il
- 2023-06
- FRONTIERS IN PEDIATRICS
- FRONTIERS MEDIA SA
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