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자료 필터
자료유형
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2019 ~ 2023
2019 2023
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전체 7건 중 1번부터 7번까지의 결과를 표시합니다.
2023
Article
Rapid Targeted Sequencing Using Dried Blood Spot Samples for Patients With Suspected Actionable Genetic Diseases
- Kim, Man Jin ;
- Kim, Soo Yeon ;
- Lee, Jin Sook ;
- Kang, Sanggoo ;
- Park, Lae-Jeong ;
- 외 7명
- 2023-05
- Annals of Laboratory Medicine
- KOREAN SOC LABORATORY MEDICINE
Article
Oncogenic signaling pathways and hallmarks of cancer in Korean patients with acral melanoma
- Moon, SeongRyeol ;
- Kim, Hee Joo ;
- Lee, Yeeun ;
- Lee, Yu Joo ;
- Jung, Sungwon ;
- ... 이진숙 ;
- ... Nam, Seungyoon ;
- 외 3명
- 2023-03
- Computers in Biology and Medicine
- PERGAMON-ELSEVIER SCIENCE LTD
2020
Article
Heterozygous TREM2 Mutation in Semantic Variant of Primary Progressive Aphasia
- 2020-04
- Journal of Clinical Neurology
- 대한신경과학회
Article
Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes
- Lee, Jin Sook ;
- Yoo, Taekyeong ;
- Lee, Moses ;
- Lee, Youngha ;
- Jeon, Eunyoung ;
- 외 5명
- 2020-04
- Clinical Genetics
- WILEY
Article
A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations
- 한지연 ;
- 김수연 ;
- 천정은 ;
- 최무림 ;
- 이진숙 ;
- 외 1명
- 2020-04
- Journal of Clinical Neurology
- 대한신경과학회
2019
Article
Clinical and genetic characteristics of Korean patients with IARS2-related disorders
- Jin Sook Lee ;
- Man Jin Kim ;
- Soo Yeon Kim ;
- Byung Chan Lim ;
- Ki Joong Kim ;
- 외 3명
- 2019-12
- 대한의학유전학회지
- 대한의학유전학회
Article
Diagnostic Challenges Associated with GLUT1 Deficiency: Phenotypic Variabilities and Evolving Clinical Features
- Kim, Hyuna ;
- Lee, Jin Sook ;
- Lee, Youngha ;
- Kim, Soo Yeon ;
- Lim, Byung Chan ;
- 외 3명
- 2019-12
- Yonsei Medical Journal
- YONSEI UNIV COLL MEDICINE