Browsing "Journal Papers" by AJOU Author : 고정민

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Showing results 2 to 14 of 14

Pub YearTitleAuthor(s)
2010Clinical characterization and analysis of the SRD5A2 gene in six Korean patients with 5alpha-reductase type 2 deficiency.고정민
2010Clinical features and outcomes of holoprosencephaly in Korea.고정민, 김성환
2010Early Diagnosis of Fabry Disease in a Patient with Toe Tip Pain고정민, 김찬, 한경림
2011Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty고정민, 이해상, 황진순
2010Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome.고정민
2010KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect.고정민, 황진순
2010Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder.고정민
2009Novel Therapies for Type 2 Diabetes Mellitus고정민
2010Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome.고정민, 배기수
2010Phenotypic and Cytogenetic Delineation of Six Korean Children with Kabuki Syndrome고정민, 김현주
2009The Clinical Features, Immunostaining and Genetic Study in Duchenne/Becker Muscular Dystrophy고정민
2010The 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
2010The natural history and prognostic factors of Graves’ disease in Korean children and adolescents고정민
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