| 2016 | | Cerebellar vermis hypoplasia in CHARGE syndrome: clinical and molecular characterization of 18 unrelated Korean patients | 손영배 |
| 2015 | | Cerebral ischemia-induced mitochondrial changes in a global ischemic rat model by AFM. | 박은국 |
| 2008 | | Challenge of Personalized Medicine in the Genomic Era | 김현주 |
| 2013 | | Characterization of functional variants in 33 blood pressure loci using 1000 genomes project data. | 진현석 |
| 2012 | | Characterization of the ATP2B gene family in blood pressure | 진현석 |
| 2005 | | Childhood X-linked adrenoleukodystrophy: clinical-pathologic overview and MR imaging manifestations at initial evaluation and follow-up. | 김현주 |
| 2019 | | Cirsium japonicum var. maackii and apigenin block Hif-2alpha-induced osteoarthritic cartilage destruction | 강이중, 박은국, 양시영, 정선용 |
| 1999 | | Clinical Analysis of 1,068 Cases of Mid-trimester Genetic Amniocentesis | 김행수, 김현주, 양정인, 오기석 |
| 2013 | | Clinical and cytogenetic features of a patient with partial trisomy 8q and partial monosomy 13q delineated by array comparative genomic hybridization. | 김성환, 박문성, 손영배, 이장훈 |
| 2013 | | Clinical and cytogenetic features of a Potocki-Lupski syndrome with the shortest 0.25Mb microduplication in 17p11.2 including RAI1. | 손영배, 임신영 |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2013 | | Clinical and genetic spectrum of 18 unrelated Korean patients with Sotos syndrome: frequent 5q35 microdeletion and identification of four novel NSD1 mutations. | 손영배, 정선용, 진현석 |
| 2003 | | Clinical and neuroradiological features of patients with spinocerebellar ataxias from Korean kindreds. | 김현주, 방오영, 이필휴, 허균 |
| 2017 | | Clinical characteristics and mutation spectrum of GLA in Korean patients with Fabry disease by a nationwide survey: Underdiagnosis of late-onset phenotype | 손영배 |
| 2010 | | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. | 고정민 |
| 2013 | | Clinical characterization and molecular classification of 12 Korean patients with pseudohypoparathyroidism and pseudopseudohypoparathyroidism. | 손영배 |
| 2010 | | Clinical features and outcomes of holoprosencephaly in Korea. | 고정민, 김성환 |
| 2017 | | Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis | 손영배 |
| 2012 | | Clinical, biochemical, and genetic analysis of two korean patients with trichorhinophalangeal syndrome type I and growth hormone deficiency | 김옥화, 손영배 |
| 2012 | | Clinical, radiologic, and genetic features of Korean patients with Mucopolysaccharidosis IVA | 손영배 |
| 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 |
| 2019 | | Effects of recombinant human growth hormone treatment on growth, body composition, and safety in infants or toddlers with Prader-Willi syndrome: a randomized, active-controlled trial | 손영배 |
| 2020 | | Efficacy and Safety of Combined Extracts of Cornus officinalis and Ribes fasciculatum for Body Fat Reduction in Overweight Women | 김정현, 박은국, 이창근, 정선용 |
| 2004 | | Endophilin B1 is required for the maintenance of mitochondrial morphology. | 정선용 |
| 2012 | | Enzyme replacement therapy improves joint motion and outcome of the 12-min walk test in a mucopolysaccharidosis type VI patient previously treated with bone marrow transplantation | 손영배 |
| 2016 | | Evaluation of the VE1 Antibody in Thyroid Cytology Using Ex Vivo Papillary Thyroid Carcinoma Specimens | 김연희, 김장희, 소의영, 이기범, 이용희, 이정훈, 임현이, 정선용, 한재호 |
| 2015 | | Experimental study of the potential hazards of surgical smoke from powered instruments. | 김철호, 김현준, 정선용, 한재호 |
| 2004 | | Expression and secretion of human glucocerebrosidase mediated by recombinant lentivirus vectors in vitro and in vivo: implications for gene therapy of Gaucher disease. | 김현주 |
| 2017 | | Familial Glycogen Storage Disease Type IXa Diagnosed by Targeted Exome Sequencing | 손영배, 이다근, 장주영 |
| 2012 | | Familial Xp22.33-Xp22.12 deletion delineated by chromosomal microarray analysis causes proportionate short stature | 손영배 |
| 2014 | | First identified Korean family with Sotos syndrome caused by a novel intragenic mutation in NSD1. | 손영배 |
