2024 | Role of Genetic Testing in Diagnosis and Prognosis Prediction in Hypertrophic Cardiomyopathy in Korea
| JOURNAL OF KOREAN MEDICAL SCIENCE |
2024 | Genotypic and phenotypic analysis of Korean patients with tuberous sclerosis complex | NEUROGENETICS |
2024 | C3 glomerulonephritis with genetically confirmed C3 deficiency in a pediatric patient: a case report
| Childhood Kidney Diseases |
2024 | Diagnosis of Primary Ciliary Dyskinesia via Whole Exome Sequencing and Histologic Findings
| YONSEI MEDICAL JOURNAL |
2023 | Genetic diagnosis of inborn errors of immunity using clinical exome sequencing
| FRONTIERS IN IMMUNOLOGY |
2022 | Next-generation sequencing-based mutational analysis of idiopathic short stature and isolated growth hormone deficiency in Korean pediatric patients | MOLECULAR AND CELLULAR ENDOCRINOLOGY |
2021 | Neonatal Type 2 Gaucher Disease with Congenital Ichthyosis: A Case Report
| Perinatology |
2021 | Clinical application of a phenotype-based NGS panel for differential diagnosis of inherited kidney disease and beyond
| CLINICAL GENETICS |
2021 | Potential role of stress-induced gluconeogenesis in disease aggravation and mortality in pyruvate dehydrogenase deficiency: A case-based hypothesis | MEDICAL HYPOTHESES |
2020 | Perivascular Stem Cell-Derived Cyclophilin A Improves Uterine Environment with Asherman's Syndrome via HIF1α-Dependent Angiogenesis | MOLECULAR THERAPY |
2015 | Syndrome of inappropriate antidiuretic hormone secretion and cerebral/renal salt wasting syndrome: similarities and differences.
| FRONTIERS IN PEDIATRICS |
2015 | Outcomes of Hemodialysis in Children: A 35-Year Experience at Severance Hospital
| YONSEI MEDICAL JOURNAL |
2015 | Noninfectious Complications of Peritoneal Dialysis in Korean Children: A 26-Year Single-Center Study
| YONSEI MEDICAL JOURNAL |
2014 | Could increased IgA induced by BAFF be the cause of IgA nephropathy development in Behcet’s disease? | RHEUMATOLOGY INTERNATIONAL |
2013 | 비전형적 혈전성 미세병증 1례
| Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지) |
2013 | 가와사키 질환에서의 신증상과 영상 검사 소견
| Journal of the Korean Society of Pediatric Nephrology (대한소아신장학회지) |