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

Browsing "1. Journal Papers" by Author : 4443

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Showing results 1 to 17 of 17

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Issue DateTitleJournal Title
2017Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus SyndromeJAMA OPHTHALMOLOGY
2021Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
2022COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype studyHUMAN GENETICS
2021CRISPR-Cas9 In Vivo Gene Editing for Transthyretin AmyloidosisNEW ENGLAND JOURNAL OF MEDICINE
2022Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation HUMAN GENETICS
2023Disease modeling of ADAMTS9-related nephropathy using kidney organoids reveals its roles in tubular cells and podocytes FRONTIERS IN MEDICINE
2021Dynamic Chronological Changes in Serum Triglycerides Are Associated With the Time Point for Non-alcoholic Fatty Liver Disease Development in the Nationwide Korean Population Cohort FRONTIERS IN MEDICINE
2020Genetic Inheritance of Late-Onset, Down-Sloping Hearing Loss and Its Implications for Auditory RehabilitationEAR AND HEARING
2020Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation BIOMOLECULES
2022In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model THERANOSTICS
2021Microbiome analysis reveals that Ralstonia is responsible for decreased renal function in patients with ulcerative colitis CLINICAL AND TRANSLATIONAL MEDICINE
2019Mutations of ADAMTS9 Cause Nephronophthisis-Related CiliopathyAMERICAN JOURNAL OF HUMAN GENETICS
2022OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin AUTOPHAGY
2020SGLT2 Inhibition Modulates NLRP3 Inflammasome Activity via Ketones and Insulin in Diabetes With Cardiovascular Disease NATURE COMMUNICATIONS
2019Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency Scientific Reports
2010The L441P mutation of cystic fibrosis transmembrane conductance regulator and its molecular pathogenic mechanisms in a Korean patient with cystic fibrosis JOURNAL OF KOREAN MEDICAL SCIENCE
2019The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report BMC MEDICAL GENETICS
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