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자료 필터
자료유형
발행연도
2009 ~ 2025
2009 2025
키워드
언어
전체 19건 중 1번부터 10번까지의 결과를 표시합니다.
2025
Article
Impact of Nusinersen on the Health-Related Quality of Life and Caregiver Burden in Patients with Spinal Muscular Atrophy with Symptom Onset before the Age of 6 Months
- Lee, Yun-jeong ;
- Bae, Hyunwoo ;
- Shim, Youngkyu ;
- Cho, Jaeso ;
- Chae, Jong-hee ;
- ... Kwon, Soonhak
- 2025-04
- Annals of Child Neurology
- Korean Child Neurology Society
Article
Genome Sequencing of Rare Disease Patients Through the Korean Regional Rare Disease Diagnostic Support Program
- Khang, Rin ;
- Lee, Hane ;
- Kim, Jihye ;
- Moon, Dongseok ;
- Jang, Seokhui ;
- ... Kwon, Soonhak ;
- 외 20명
- 2025-01
- Human Mutation
- WILEY
2024
Article
Clinical Impact of Coronavirus Disease 2019 Outbreaks in Korea on Seizures in Children
- Lee, Seungjae ;
- Hwang, Sukyeong ;
- Lee, Yun-jeong ;
- Bae, Hyunwoo ;
- Kwon, Soonhak
- 2024-07
- Annals of Child Neurology
- Korean Child Neurology Society
2023
Article
Metanephrine negative pheochromocytoma: a rare case report of dopamine- secreting tumor in an adolescent neurofibromatosis type 1 patient
- Lee, Mi-Seon ;
- Lee, Rosie ;
- Park, Sook-Hyun ;
- Kwon, Soon Hak ;
- Park, Jin-Young ;
- ... Lee, Sang-Woo ;
- ... Lee, So-Mi ;
- ... Moon, Jung-Eun
- 2023-12
- Annals of Pediatric Endocrinology & Metabolism
- KOREAN SOC PEDIATRIC ENDOCRINOLOGY
Article
Evaluation of the neurofilament light chain as a biomarker in children with spinal muscular atrophy treated with nusinersen
- Seo, Gigyo ;
- Kim, Saeyoon ;
- Byun, Jun Chul ;
- Kwon, Soonhak ;
- Lee, Yun Jeong
- 2023-11
- Brain and Development
- ELSEVIER
Article
Impact of nusinersen on the health-related quality of life and caregiver burden of patients with spinal muscular atrophy with symptom onset after age 6 months
- Lee, Yun Jeong ;
- Kim, Ae Ryoung ;
- Lee, Jong-Mok ;
- Shim, Young Kyu ;
- Cho, Jae So ;
- ... Kwon, Soonhak ;
- 외 2명
- 2023-10
- Muscle and Nerve
- WILEY
Article
A unique combination of Klinefelter syndrome and Three M Syndrome in a boy with short stature
- Lee, Mi-Seon ;
- Lee, Rosie ;
- Lee, Sang-Eun ;
- Kwak, Na-eun ;
- Kwon, Soon-Hak ;
- ... Moon, Jung-Eun
- 2023-09
- Hormone Research in Paediatrics
- KARGER
2022
Article
The Korean undiagnosed diseases program phase I: expansion of the nationwide network and the development of long-term infrastructure
- Kim, Soo Yeon ;
- Lee, Seungbok ;
- Woo, Hyewon ;
- Han, Jiyeon ;
- Ko, Young Jun ;
- ... Lee, Yun Jeong ;
- ... Kwon, Soonhak ;
- 외 35명
- 2022-10-08
- Orphanet Journal of Rare Diseases
- BMC
Article
Clinical Usefulness of Simultaneous Electroencephalography and Functional Magnetic Resonance Imaging in Children With Focal Epilepsy
- Lee, Yun Jeong ;
- Bae, Hyunwoo ;
- Byun, Jun Chul ;
- Kwon, Soonhak ;
- Oh, Sung Suk ;
- 외 1명
- 2022-09
- Journal of Clinical Neurology
- KOREAN NEUROLOGICAL ASSOC