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Phenotypic Variability of a Terminal 7q Deletion/8q Duplication in Korean Siblings

Kwun Y, Seo EJ, Yoo HW, Lee BS, Kim KS, Kim EA

No abstract available.
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Clinical Characteristics of Juvenile-onset Open Angle Glaucoma

Kwun Y, Lee EJ, Han JC, Kee C

PURPOSE: To demonstrate the clinical characteristics of juvenile-onset open angle glaucoma (JOAG) and to evaluate the prognostic factors for visual field (VF) progression in eyes with JOAG. METHODS: The medical records...
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Validity of the Ages and Stages Questionnaires in Korean Compared to Bayley Scales of Infant Development-II for Screening Preterm Infants at Corrected Age of 18-24 Months for Neurodevelopmental Delay

Kwun Y, Park HW, Kim MJ, Lee BS, Kim EA

This study aimed to evaluate the validity of the ages and stages questionnaire in Korean (ASQ 1st edition, Korean Questionnaires, Seoul Community Rehabilitation Center, 2000) for premature infants. The study...
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Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion

Yang A, Lee YH, Nam SY, Jeong YJ, Kyung Y, Huh R, Lee J, Kwun Y, Cho SY, Jin DK

PURPOSE: Prader-Willi syndrome (PWS) is a well-known genetic disorder, and microdeletion on chromosome 15 is the most common causal mechanism. Several previous studies have suggested that various environmental factors might...
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Targeting Risk Factors for the Control of Central Line-Associated Bloodstream Infection in the Neonatal Intensive Care Unit: A Single Tertiary Center Experience

Jeong J, Kwun Y, Kim Mj, Choi SH, Jung E, Lee BS, Kim KS, Kim EAR

Purpose: The aim of this study was to estimate the effect of targeting risk factors for the control of central line-associated bloodstream infection (CLABSI) among high-risk infants in a tertiary...
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Chronic Epstein-Barr virus infection causing both benign and malignant lymphoproliferative disorders

Kwun Y, Hong SJ, Lee JS, Son DH, Seo JJ

The Epstein-Barr virus (EBV) is oncogenic and can transform B cells from a benign to a malignant phenotype. EBV infection is also associated with lymphoid interstitial pneumonia (LIP). Here, we...
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Impact of Enzyme Replacement Therapy on Linear Growth in Korean Patients with Mucopolysaccharidosis Type II (Hunter Syndrome)

Cho SY, Huh R, Chang MS, Lee J, Kwun Y, Maeng SH, Kim SJ, Sohn YB, Park SW, Kwon EK, Han SJ, Jung J, Jin DK

Hunter syndrome (or mucopolysaccharidosis type II [MPS II]) arises because of a deficiency in the lysosomal enzyme iduronate-2-sulfatase. Short stature is a prominent and consistent feature in MPS II. Enzyme...
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Disease-specific Growth Charts of Marfan Syndrome Patients in Korea

Kwun Y, Kim SJ, Lee J, Isojima T, Choi DS, Kim DK, Huh J, Kang IS, Chang M, Cho SY, Sohn YB, Park SW, Jin DK

Patients with Marfan syndrome (MFS) presents with primary skeletal manifestations such as tall stature, chest wall abnormality, and scoliosis. These primary skeletal manifestations affect the growth pattern in MFS. Therefore,...
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