Clinical and genetic spectrum of GSD type 6 in Korea
Hahn, Jong Woo, Lee, Heerah, Seong, Moon Woo, Kang, Gyeong Hoon, Moon, Jin Soo, Ko, Jae Sung
Published in Orphanet journal of rare diseases (01.06.2023)
Published in Orphanet journal of rare diseases (01.06.2023)
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Journal Article
Utility of Next-Generation Sequencing-Based Chimerism Analysis for Early Relapse Prediction following Allogenic Hematopoietic Cell Transplantation
Lee, Heerah, Chae, Seung-Won, Cho, Sung Im, Lee, Jee-Soo, Kim, Man Jin, Seong, Moon-Woo
Published in International journal of molecular sciences (28.02.2024)
Published in International journal of molecular sciences (28.02.2024)
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Journal Article
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
Lee, Heerah, Lee, Jung Ae, Lee, Hyesu, Lee, Jee-Soo, Ko, Jung Min, Kim, Man Jin, Seong, Moon-Woo
Published in Annals of laboratory medicine (01.11.2023)
Published in Annals of laboratory medicine (01.11.2023)
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Journal Article
A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing
Lee, Heerah, Kim, Hyun-Ki, Yang, Dong-Hoon, Hong, Yong Sang, Lee, Woochang, Lim, Seok-Byung, Byeon, Jeong-Sik, Chun, Sail, Min, Won-Ki
Published in Annals of laboratory medicine (01.01.2021)
Published in Annals of laboratory medicine (01.01.2021)
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Journal Article
Diagnostic algorithm for neonatal intrahepatic cholestasis integrating single‐gene testing and next‐generation sequencing in East Asia
Hahn, Jong Woo, Lee, Heerah, Shin, MinSoo, Seong, Moon Woo, Moon, Jin Soo, Ko, Jae Sung
Published in Journal of gastroenterology and hepatology (01.05.2024)
Published in Journal of gastroenterology and hepatology (01.05.2024)
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Journal Article
The Korean Genetic Diagnosis Program for Rare Disease Phase II: outcomes of a 6-year national project
Kim, Man Jin, Kim, Boram, Lee, Heerah, Lee, Jee-Soo, Chae, Seung Won, Shin, Ho Seob, Cho, Sung Im, Kim, Soo Yeon, Moon, Jangsup, Lim, Byung Chan, Ko, Jung Min, Chae, Jong-Hee, Park, Sung Sup, Seong, Moon-Woo
Published in European journal of human genetics : EJHG (01.10.2023)
Published in European journal of human genetics : EJHG (01.10.2023)
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Journal Article
Progressive Cognitive and Behavioral Changes With Leukodystrophy due to ABCD1 Gene Mutation
Park, Jinseok, Lee, Sanggon, Lee, Heerah, Lee, Jee Soo, Seong, Moon-Woo, Kim, Hee-Jin
Published in Dementia and neurocognitive disorders (01.10.2022)
Published in Dementia and neurocognitive disorders (01.10.2022)
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Journal Article
Causes and Clinical Relevance of Inconclusive SARS-CoV-2 Real-Time Reverse Transcription-PCR Test Results
Kim, Aram, Lee, Heerah, Hur, Kyu-Hwa, Sung, Heungsup, Kim, Mi-Na
Published in Annals of clinical microbiology (20.12.2020)
Published in Annals of clinical microbiology (20.12.2020)
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Journal Article
Elimination of Anti-CD47 Interference in Pretransfusion Testing by Multiple Platelet Alloadsorption: A Case Report
Lee, Heerah, Kim, Yee Jie, Kim, Jin Seok, Yang, John Jeongseok, Hwang, Sang-Hyun, Oh, Heun-Bum, Ko, Dae-Hyun
Published in Laboratory Medicine Online (01.10.2020)
Published in Laboratory Medicine Online (01.10.2020)
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Journal Article
Variant Allele Frequency of Pseudogene-Related Variants in Short-read Next-Generation Sequencing Data May Mislead Genetic Diagnosis: A Case of Shwachman-Diamond Syndrome
Lee, Heerah, Lee, Jung Ae, Lee, Hyesu, Lee, Jee-Soo, Ko, Jung Min, Kim, Man Jin, Seong, Moon-Woo
Published in Annals of laboratory medicine (01.11.2023)
Published in Annals of laboratory medicine (01.11.2023)
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A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing
Lee, Heerah, Kim, Hyun-Ki, Yang, Dong-Hoon, Hong, Yong Sang, Lee, Woochang, Lim, Seok-Byung, Byeon, Jeong-Sik, Chun, Sail, Min, Won-Ki
Published in Annals of laboratory medicine (01.01.2021)
Published in Annals of laboratory medicine (01.01.2021)
Get full text
Report