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자료 필터
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2019 ~ 2026
2019 2026
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전체 31건 중 11번부터 20번까지의 결과를 표시합니다.
2024
Article
DISCREPANCIES OF ANEMIA-RELATED VARIANTS DUE TO REFERENCE GENOME SELECTION: HUMAN GENOME 19 VS. GENOME REFERENCE CONSORTIUM HUMAN BUILD 38
- Park, Kyoung-Jin ;
- Park, Jong-Ho ;
- Jang, Woori ;
- Kim, Young-Jae
- 2024-12
- International Journal of Laboratory Hematology
- Blackwell Science
Article
Comprehensive clinical and molecular characterization of Neurofibromatosis Type 1: Unveiling the diversity of pathogenic variants and overlapping phenotypes
- Jang, Woori ;
- Kim, Jiyeon ;
- Park, Kyoung-Jin ;
- Park, Joonhong
- 2024-12
- European Journal of Human Genetics
- Natue Publishing Group
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
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.
2023
Article
Novel mutation in KIF5A gene associated with hereditary motor and sensory neuropathy and cognitive impairment: a case report and literature review
- Hong, Uichan ;
- Lee, Jinsik ;
- Choi, Seohee ;
- Jang, Woori ;
- Kwon, Soonwook
- 2023-12
- Acta Neurologica Belgica
- Acta Medica Belgica
Article
Neurofibromatosis Type 1 with Arnold Chiari Type 1 Malformation in A Child
- Ro, Hae Young ;
- Yoon, Seok Won ;
- Jang, Woo Ri ;
- Kwon, Young Se
- 2023
- Annals of Child Neurology
- Korean Child Neurology Society
2022
Article
Targeted Panel Sequencing Identifies an Intronic c.5225-3C>G Variant of the FBN1 Gene Causing Sporadic Marfan Syndrome with Annuloaortic Ectasia
- Kim, Kyung Hwa ;
- Kim, Tae Yun ;
- Kim, Soon Jin ;
- Cho, Yong Gon ;
- Park, Joonhong ;
- ... Jang, Woori
- 2022-11
- Genes
- Multidisciplinary Digital Publishing Institute (MDPI)
Article
Comparison of In Silico Tools for Splice-Altering Variant Prediction Using Established Spliceogenic Variants: An End-User's Point of View
- Jang, Woori ;
- Park, Joonhong ;
- Chae, Hyojin ;
- Kim, Myungshin
- 2022-10-13
- International Journal of Genomics
- Hindawi Publishing Corporation
Article
A novel variant of the POLR3A gene in a patient with hypomyelinating POLR3-related leukodystrophy
- Han, Ji Yoon ;
- Cho, Yong Gon ;
- Park, Joonhong ;
- Jang, Woori
- 2022-08-01
- Clinica Chimica Acta
- Elsevier BV
Article
Intergenerational Influence of Gender and the DM1 Phenotype of the Transmitting Parent in Korean Myotonic Dystrophy Type 1
- Han, Ji Yoon ;
- Jang, Woori ;
- Park, Joonhong
- 2022-08
- Genes
- Multidisciplinary Digital Publishing Institute (MDPI)