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자료 필터
자료유형
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2015 ~ 2025
2015 2025
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전체 23건 중 11번부터 20번까지의 결과를 표시합니다.
2019
Article
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
- Salpietro, Vincenzo ;
- Dixon, Christine L. ;
- Guo, Hui ;
- Bello, Oscar D. ;
- Vandrovcova, Jana ;
- ... Yoo, Yongjin ;
- 외 232명
- 2019-07
- Nature Communications
- Nature Publishing Group
Article
An early seizure variant type of a male Rett syndrome patient with a MECP2 p.Arg133His missense mutation
- Yoon, Jin A. ;
- Yoo, Yongjin ;
- Lee, Je Sang ;
- Kim, Young Mi ;
- Shin, Yong Beom
- 2019-03
- Molecular Genetics & Genomic Medicine
- Wiley
2018
Article
Genomic analysis of synchronous intracranial meningiomas with different histological grades
- Chowdhury, Tamrin ;
- Yoo, Yongjin ;
- Seo, Youngbeom ;
- Dho, Yun-Sik ;
- Kim, Sojin ;
- 외 6명
- 2018-05
- Journal of Neuro-Oncology
- Kluwer Academic Publishers
Article
Erratum: Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up [Ann Oncol, 28, 1, (2017) (75-82)] DOI: 10.1093/annonc/mdw436
- Kadara, Humam N. ;
- Choi, Myong Yong ;
- Zhang, Jiexin ;
- Parra, Edwin Roger C ;
- Rodriguez-Canales, Jaime A. ;
- ... Yoo, Yongjin ;
- 외 19명
- 2018-04
- Annals of Oncology
- Oxford University Press
Article
Defining the phenotypic spectrum of SLC6A1 mutations
- Johannesen, Katrine M. ;
- Gardella, Elena ;
- Linnankivi, Tarja ;
- Courage, Carolina ;
- de Saint Martin, Anne ;
- ... Yoo, Yongjin ;
- 외 46명
- 2018-02
- Epilepsia
- Blackwell Publishing Inc.
Article
Reply to “a novel mutation in the transmembrane 6 domain of GABBR2 leads to a rett-like phenotype”
- Yoo, Yongjin ;
- Cho, Jaeso ;
- Choi, Murim
- 2018-02
- Annals of Neurology
- John Wiley & Sons Inc.
2017
Article
GABBR2 Mutations Determine Phenotype in Rett Syndrome and Epileptic Encephalopathy
- Yoo, Yongjin ;
- Jung, Jane ;
- Lee, Yoo na ;
- Lee, Youngha ;
- Cho, Hyosuk ;
- ... Seong, Jae Young ;
- 외 29명
- 2017-09
- Annals of Neurology
- John Wiley & Sons Inc.
Article
Wiedemann-Steiner Syndrome with 2 Novel KMT2A Mutations: Variable Severity in Psychomotor Development and Musculoskeletal Manifestation
- Min Ko, Jung ;
- Cho, Jae So ;
- Yoo, Yongjin ;
- Seo, Jieun ;
- Choi, Murim ;
- 외 3명
- 2017-02
- Journal of Child Neurology
- SAGE Publications Inc.
Article
Whole-exome sequencing and immune profiling of early-stage lung adenocarcinoma with fully annotated clinical follow-up
- Kadara, H. ;
- Choi, M. ;
- Zhang, J. ;
- Parra, E. R. ;
- Rodriguez-Canales, J. ;
- ... Yoo, Y. ;
- 외 19명
- 2017-01
- Annals of Oncology
- Oxford University Press
2016
Article
GM3 synthase deficiency due to ST3GAL5 variants in two Korean female siblings: Masquerading as Rett syndrome-like phenotype
- Lee, Jin Sook ;
- Yoo, Yongjin ;
- Lim, Byung Chan ;
- Kim, Ki Joong ;
- Song, Junghan ;
- 외 2명
- 2016-08
- American Journal of Medical Genetics, Part A
- Wiley-Liss Inc