1. Journal Papers

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Issue DateTitleJournal Title
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2019Gene panel sequencing identifies a likely monogenic cause in 7% of 235 Pakistani families with nephrolithiasisHuman Genetics
2019Temperature-dependent increase in the calcium sensitivity and acceleration of activation of ANO6 chloride channel variants Scientific Reports
2019En bloc and segmental deletions of human XIST reveal X chromosome inactivation-involving RNA elements NUCLEIC ACIDS RESEARCH
2019Low binding affinity and reduced complement-dependent cell death efficacy of ofatumumab produced using a plant system (Nicotiana benthamiana L.)PROTEIN EXPRESSION AND PURIFICATION
2019Overexpression and Implications of Melanoma-associated Antigen A12 in Pathogenesis of Human Cutaneous Squamous Cell CarcinomaANTICANCER RESEARCH
2019Reduced expression of pyruvate kinase in kidney proximal tubule cells is a potential mechanism of pravastatin altered glucose metabolism SCIENTIFIC REPORTS
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
2018Population pharmacokinetic model of levetiracetam in Korean neonates with seizuresINTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS
2019Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyAMERICAN JOURNAL OF HUMAN GENETICS
2019A recurrent mutation in KCNQ4 in Korean families with nonsyndromic hearing loss and rescue of the channel activity by KCNQ activatorsHUMAN MUTATION
2019A novel early truncation mutation in OTOG causes prelingual mild hearing loss without vestibular dysfunctionEUROPEAN JOURNAL OF MEDICAL GENETICS
2018Rapid-Onset Obesity with Hypoventilation, Hypothalamic, Autonomic Dysregulation, and Neuroendocrine Tumors (ROHHADNET) Syndrome: A Systematic Review BIOMED RESEARCH INTERNATIONAL
2018Population PK-PD Model of Pegylated Interferon Alfa-2a in Healthy Korean MenJOURNAL OF PHARMACEUTICAL SCIENCES
2018Hyperpolarized [1-13C] pyruvate MR spectroscopy detect altered glycolysis in the brain of a cognitively impaired mouse model fed high-fat diet MOLECULAR BRAIN
2017소아에서 비전형적인 임상양상을 보인 스피츠모반 1예Korean Journal of Dermatology (대한피부과학회지)
2018Three-dimensional Cardiomyocytes Structure Revealed By Diffusion Tensor Imaging and Its Validation Using a Tissue-Clearing Technique SCIENTIFIC REPORTS
2017Hippocampus-Dependent Goal Localization by Head-Fixed Mice in Virtual Reality ENEURO
2018Targeted Temperature Management at 33°C or 36°C Produces Equivalent Neuroprotective Effects in the Middle Cerebral Artery Occlusion Rat Model of Ischemic StrokeSHOCK
2018Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss SCIENTIFIC REPORTS

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