2010 | | Cognitive Profile of Children with Williams Syndrome: Comparison with Children with Prader-Willi Syndrome and Down Syndrome | 김현주, 임신영 |
2018 | | Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism | 김정현, 박은국, 정선용 |
2012 | | Continuous renal replacement therapy in neonates weighing less than 3 kg | 손영배 |
2007 | | Controversial issues in the legal restriction for Prenatal genetic testing in Korea | 김현주, 정선용 |
2019 | | Correction to: Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia | 손영배 |
2012 | | Correlation Between Unidentified Bright Objects on Brain Magnetic Resonance Imaging (MRI) and Cerebral Glucose Metabolism in Patients with Neurofibromatosis Type 1 | 김현주, 손영배, 안영실, 이수진, 정선용, 최진욱 |
2010 | | De novo pericentric inversion of chromosome 9 in congenital anomaly. | 정선용 |
2019 | | Deletion of exons 16-17b of CFTR is frequently identified in Korean patients with cystic fibrosis | 손영배, 장주영 |
2016 | | Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies | 손영배 |
2007 | | Development of medical genetics training program and certification process for medical geneticist as a specialist in Korea | 김현주 |
2012 | | Diagnosis and constitutional and laboratory features of Korean girls referred for precocious puberty | 손영배 |
2001 | | Diagnostic patterns of very-long-chain fatty acids in plasma of patients with X-linked adrenoleukodystrophy. | 김현주 |
2015 | | Disease-specific growth charts for Korean infants with Prader-Willi syndrome. | 손영배 |
2015 | | Disease-specific Growth Charts of Marfan Syndrome Patients in Korea. | 손영배 |
2019 | | Drp1 Phosphorylation Is Indispensable for Steroidogenesis in Leydig Cells | 정선용 |
2010 | | Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain | 고정민, 김찬, 한경림 |
2015 | | Effect of systemic high dose enzyme replacement therapy on the improvement of CNS defects in a mouse model of mucopolysaccharidosis type II. | 손영배 |
2016 | | Effects of Dihydrophaseic Acid 3'-O-beta-d-Glucopyranoside Isolated from Lycii radicis Cortex on Osteoblast Differentiation | 김정현, 박은국, 정선용 |
2022 | | Effects of Loganin on Bone Formation and Resorption In Vitro and In Vivo | 김정현, 박은국, 정선용 |
2004 | | Effects of Pamidronate Treatment on Osteogenesis Imperfecta | 김대중, 김현주, 이관우, 정윤석 |