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Result: 3

Case Report | 2022-04-01
De novo HCN1 Mutation Identified by Next-Generation Sequencing in a Patient with Early Infantile Epileptic Encephalopathy: Case Report

Hanmil Jang, M.D.¹, Dongju Won, M.D. ¹, Saeam Shin, M.D.¹, Seung-Tae Lee, M.D.¹, Jong Rak Choi, M.D.¹, Joon Soo Lee, M.D. ²

https://doi.org/10.47429/lmo.2022.12.2.134
Lab Med Online 2022; 12(2): 134-137
Keywords:
HCN1, Neurodevelopmental disease, Early infantile epileptic encephalopathy, de novo mutation, Next-generation sequencing

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Case Report | 2022-01-01
Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer

Hanmil Jang, M.D.¹, Dongju Won, M.D.¹, Saeam Shin, M.D. ¹, Seong Yong Park, M.D. ², Dae Joon Kim, M.D.², Seung-Tae Lee, M.D.¹, Jong Rak Choi, M.D.¹

https://doi.org/10.47429/lmo.2022.12.1.63
Lab Med Online 2022; 12(1): 63-67
Keywords:
Circulating tumor DNA, Germline mutation, CDKN2A, Liquid biopsy, Hereditary cancer syndromes

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Case Report | 2022-01-01
JAK2 V617F-Positive Acute Myeloid Leukemia: Clinicopathological Features of Two Cases

Youngeun Lee, M.D.¹, Ji Yun Lee, M.D.², Jeong-Ok Lee, M.D.², Soo-Mee Bang, M.D.², Sang Mee Hwang, M.D. ^1,3

https://doi.org/10.47429/lmo.2022.12.1.53
Lab Med Online 2022; 12(1): 53-57
Keywords:
Acute myeloid leukemia, JAK2 mutation, Next-generation sequencing

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