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자료 필터
자료유형
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2018 ~ 2026
2018 2026
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선택된 필터
- article
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전체 65건 중 11번부터 20번까지의 결과를 표시합니다.
2025
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 ;
- ... Lee, Ji-Eun ;
- 외 20명
- 2025
- Human Mutation
- John Wiley & Sons Inc.
2024
Article
Cohort profile: Multicenter Networks for Ideal Outcomes of Rare Pediatric Endocrine and Metabolic Diseases in Korea (OUTSPREAD study)
- Lee, Yun Jeong ;
- Cheon, Chong Kun ;
- Suh, Junghwan ;
- Moon, Jung-Eun ;
- Ahn, Moon Bae ;
- ... Lee, Jieun ;
- 외 25명
- 2024-12
- Annals of Pediatric Endocrinology & Metabolism
- 대한소아내분비학회
Article
Identification of a novel splice variant in SEC23B gene in a patient with concomitant presence of congenital dyserythropoietic anemia II and Gilbert's syndrome
- Jang, Woori ;
- Ha, Dong Jun ;
- Nahm, Chung Hyun ;
- Park, Jisun ;
- Kim, Su Jin ;
- ... Lee, Ji-Eun ;
- ... Moon, Yeonsook
- 2024-12
- Hematology
- Maney Publishing
Article
Evaluating the diagnostic utility of Autoantibodies in Korean pediatric diabetes patient
- Joo, Eun Young ;
- Lee, Ji-Eun
- 2024-10
- Hormone Research in Paediatrics
- Karger AG
Article
Clinical efficacy of multigene panels in the management of congenital hypothyroidism with gland in situ
- Park, Jisun ;
- Joo, Eun Young ;
- Yoo, Myung Ji ;
- Kim, Su-Jin ;
- Jang, Woori ;
- ... Lee, Ji-Eun
- 2024-07-19
- Medicine
- Lippincott Williams & Wilkins Ltd.
Article
Fatal Outcome of Acute Mesenteric Ischaemia Associated with Diabetic Ketoacidosis in a Child During the COVID-19 Pandemic: A Case Report
- Park, D. S. ;
- Lee, Y. S. ;
- Joo, E. Y. ;
- Lee, J. E.
- 2024-04
- Hong Kong Journal of Paediatrics
- Medcom Limited
Article
Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome
- Joo, Eun Young ;
- Yoo, Myung Ji ;
- Kim, Su Jin ;
- Jang, Woori ;
- Lee, Ji-Eun
- 2024-04
- Frontiers in Endocrinology
- Frontiers Media S.A.
Article
Genetic evaluation using next-generation sequencing of children with short stature: a single tertiary-center experience
- Kim, Su Jin ;
- Joo, Eunyoung ;
- Park, Jisun ;
- Seol, Chang Ahn ;
- Lee, Ji-Eun
- 2024-02
- Annals of Pediatric Endocrinology & Metabolism
- 대한소아내분비학회
2023
Article
2022 Clinical practice guidelines for central precocious puberty of Korean children and adolescents
- Kim, Su Jin ;
- Kim, Ji Hyun ;
- Hong, Yong Hee ;
- Chung, In Hyuk ;
- Lee, Eun Byoul ;
- ... Lee, Jieun ;
- 외 8명
- 2023-09
- Annals of Pediatric Endocrinology & Metabolism
- 대한소아내분비학회