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자료 필터
자료유형
발행연도
2012 ~ 2026
2012 2026
키워드
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전체 128건 중 91번부터 100번까지의 결과를 표시합니다.
2021
Article
Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
- Dyment, David A. ;
- O'Donnell-Luria, Anne ;
- Agrawal, Pankaj B. ;
- Coban Akdemir, Zeynep ;
- Aleck, Kyrieckos A. ;
- ... Choi, Jungmin ;
- 외 68명
- 2021-01
- American Journal of Medical Genetics, Part A
- Wiley-Liss Inc
Article
Genetic identification of inherited cystic kidney diseases for implementing precision medicine: a study protocol for a 3-year prospective multicenter cohort study
- Park, Hayne Cho ;
- Ryu, Hyunjin ;
- Kim, Yong-Chul ;
- Ahn, Curie ;
- Lee, Kyu-Beck ;
- ... Choi, Jungmin ;
- 외 13명
- 2021-01
- BMC Nephrology
- BioMed Central
2020
Article
Exome Sequencing Implicates Impaired GABA Signaling and Neuronal Ion Transport in Trigeminal Neuralgia
- Dong, Weilai ;
- Jin, Sheng Chih ;
- Allocco, August ;
- Zeng, Xue ;
- Sheth, Amar H. ;
- ... Choi, Jungmin ;
- 외 43명
- 2020-10
- iScience
- CELL PRESS
Article
Congenital Heart Defects Due to TAF1 Missense Variants
- Morton, Sarah U. ;
- Agarwal, Radhika ;
- Madden, Jill A. ;
- Genetti, Casie A. ;
- Brownstein, Catherine A. ;
- ... Choi, Jungmin ;
- 외 5명
- 2020-06
- Circulation-genomic and Precision Medicine
- LIPPINCOTT WILLIAMS & WILKINS
Article
Large Deletions in GANAB and SEC63 Explain 2 Cases of Polycystic Kidney and Liver Disease
- Wilson, Elena M. ;
- Choi, Jungmin ;
- Torres, Vicente E. ;
- Somlo, Stefan ;
- Besse, Whitney
- 2020-05
- Kidney International Reports
- Elsevier | International Society of Nephrology
Article
Collagen IV Gene Mutations in Adults With Bilateral Renal Cysts and CKD
- Gulati, Ashima ;
- Sevillano, Angel M. ;
- Praga, Manuel ;
- Gutierrez, Eduardo ;
- Alba, Ignacio ;
- ... Choi, Jungmin ;
- 외 3명
- 2020-01
- Kidney International Reports
- Elsevier | International Society of Nephrology
2019
Article
Whole-exome sequencing of cervical carcinomas identifies activating ERBB2 and PIK3CA mutations as targets for combination therapy
- Zammataro, Luca ;
- Lopez, Salvatore ;
- Bellone, Stefania ;
- Pettinella, Francesca ;
- Bonazzoli, Elena ;
- ... Choi, Jungmin ;
- 외 39명
- 2019-11-05
- Proceedings of the National Academy of Sciences of the United States of America
- National Academy of Sciences
Article
Identification of a dominant MYH11 causal variant in chronic intestinal pseudo-obstruction: Results of whole-exome sequencing
- Dong, Weilai ;
- Baldwin, Clinton ;
- Choi, Jungmin ;
- Milunsky, Jeff M. ;
- Zhang, Junhui ;
- 외 3명
- 2019-11
- Clinical Genetics
- Blackwell Publishing Inc.
Article
Expression Analysis and Significance of PD-1, LAG-3, and TIM-3 in Human Non-Small Cell Lung Cancer Using Spatially Resolved and Multiparametric Single-Cell Analysis
- Datar, Ila ;
- Sanmamed, Miguel F. ;
- Wang, Jun ;
- Henick, Brian S. ;
- Choi, Jungmin ;
- 외 20명
- 2019-08-01
- Clinical Cancer Research
- American Association for Cancer Research
Article
EGFR mutation subtypes and response to immune checkpoint blockade treatment in non-small-cell lung cancer
- Hastings, K. ;
- Yu, H. A. ;
- Wei, W. ;
- Sanchez-Vega, F. ;
- DeVeaux, M. ;
- ... Choi, J. ;
- 외 25명
- 2019-08
- Annals of Oncology
- Oxford University Press