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YUHSpace1. College of Medicine (의과대학)Dept. of Laboratory Medicine (진단검사의학교실)1. Journal Papers

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Showing results 20 to 33 of 33

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Issue DateTitleJournal Title
2019Next-generation sequencing with comprehensive bioinformatics analysis facilitates somatic mosaic APC gene mutation detection in patients with familial adenomatous polyposis BMC Medical Genomics
2022Noncanonical Splice Site and Deep Intronic FRMD7 Variants Activate Cryptic Exons in X-linked Infantile Nystagmus TRANSLATIONAL VISION SCIENCE & TECHNOLOGY
2021Novel indel mutation in the N gene of SARS-CoV-2 clinical samples that were diagnosed positive in a commercial RT-PCR assayVIRUS RESEARCH
2022Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort GENES
2020Reanalysis of Genomic Sequencing Results in a Clinical Laboratory: Advantages and Limitations FRONTIERS IN NEUROLOGY
2022Secondary Germline CDKN2A Mutation Identified using Liquid Biopsy in a Patient with Esophageal Cancer Laboratory Medicine Online
2019Somatic mosaic truncating mutations of PPM1D in blood can result from expansion of a mutant clone under selective pressure of chemotherapy PLoS One
2022Trajectory of genetic alterations associated with colistin resistance in Acinetobacter baumannii during an in-hospital outbreak of infectionJOURNAL OF ANTIMICROBIAL CHEMOTHERAPY
2021TUBB3 M323V Syndrome Presents with Infantile Nystagmus GENES
2023Utility of Plasma Microbial Cell-Free DNA Whole-Genome Sequencing for Diagnosis of Invasive Aspergillosis in Patients With Hematologic Malignancy or COVID-19JOURNAL OF INFECTIOUS DISEASES
2019말초삽입 중심정맥관에서 채취한 혈액에서 동정된 Chryseobacterium hominis 1례 보고 Laboratory Medicine Online
2022순환종양핵산 검사의 임상 적용 Laboratory Medicine Online
2024저신장 환아에서 발견한 TRAPPC2 유전자 돌연변이의 기능 검사를 통한 해석 1예 보고 Laboratory Medicine Online
2022조기영아성간질성뇌병증 환자에서 de novo로 확인된 HCN1 유전자 돌연변이 1예 보고 Laboratory Medicine Online
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