| 2011 | | Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty Journal of Korean Society of Pediatric Endocrinology, 16(1). : 38-45, 2011 | 고정민, 이해상, 황진순 |
| 2010 | | The natural history and prognostic factors of Graves’ disease in Korean children and adolescents Korean journal of pediatrics, 53(4). : 585-591, 2010 | 고정민 |
| 2010 | | Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain The Korean journal of pain, 23(3). : 207-210, 2010 | 고정민, 김찬, 한경림 |
| 2010 | | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome Journal of genetic medicine, 7(1). : 37-44, 2010 | 고정민, 김현주 |
| 2010 | | Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. Journal of Korean medical science, 25(12). : 1798-1801, 2010 | 고정민, 배기수 |
| 2010 | | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. Clinical endocrinology, 73(1). : 66-71, 2010 | 고정민 |
| 2010 | | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. Pediatric neurology, 42(5). : 369-371, 2010 | 고정민 |
| 2010 | | The common exon 3 polymorphism of the growth hormone receptor gene and the effect of growth hormone therapy on growth in Korean patients with Turner syndrome. Clinical endocrinology, 72(2). : 196-202, 2010 | 고정민 |
| 2010 | | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. Hormone research in pædiatrics, 73(1). : 41-48, 2010 | 고정민 |
| 2010 | | Clinical features and outcomes of holoprosencephaly in Korea. Pediatric neurology, 43(4). : 245-252, 2010 | 고정민, 김성환 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. Endocrine journal, 57(8). : 701-709, 2010 | 고정민, 황진순 |
| 2009 | | A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia Journal of genetic medicine, 6(1). : 81-86, 2009 | 고정민, 곽규성, 김현주 |
| 2009 | | The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy Journal of the Korean Child Neurology Society, 17(1). : 40-49, 2009 | 고정민 |
| 2009 | | Novel Therapies for Type 2 Diabetes Mellitus Journal of Korean Society of Pediatric Endocrinology, 14(1). : 11-18, 2009 | 고정민 |
| 2009 | | A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. European journal of pediatrics, 168(7). : 877-880, 2009 | 고정민 |