Browsing by AJOU Author : 고정민
Showing results 1 to 15 of 15
| Publication Year | Title | AJOU
Author |
| 2009 | A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene. | 고정민 |
| 2009 | A Novel COMP Gene Mutation in a Korean Kindred with Multiple Epiphyseal Dysplasia | 고정민, 곽규성, 김현주 |
| 2010 | Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency. | 고정민 |
| 2010 | Clinical features and outcomes of holoprosencephaly in Korea. | 고정민, 김성환 |
| 2010 | Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain | 한경림, 김찬, 고정민 |
| 2011 | Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty | 고정민, 이해상, 황진순 |
| 2010 | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. | 고정민 |
| 2010 | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 2010 | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 고정민 |
| 2009 | Novel Therapies for Type 2 Diabetes Mellitus | 고정민 |
| 2010 | Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. | 고정민, 배기수 |
| 2010 | Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome | 고정민, 김현주 |
| 2009 | The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy | 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. | 고정민 |
| 2010 | The natural history and prognostic factors of Graves’ disease in Korean children and adolescents | 고정민 |
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