Browsing "Medical Genetics" by Publication Year :
Showing results 161 to 180 of 225
| Pub Year | | Title | Author(s) |
| 2011 | | Clinical and genetic characteristics of Korean patients with Gaucher disease. | 김현주, 정선용 |
| 2011 | | Identification of a novel recombinant mutation in Korean patients with Gaucher disease using a long-range PCR approach. | 김현주, 정선용 |
| 2011 | | Replicated association between genetic variation in the PARK2 gene and blood pressure. | 정선용, 진현석 |
| 2011 | | Genetic Variations of GNRH1, GNRHR and GPR54 Genes in Korean Girls with Central Precocious Puberty | 고정민, 이해상, 황진순 |
| 2011 | | Strabismus and Poor Stereoacuity Associated with Kabuki Syndrome | 김현주 |
| 2011 | | Two Children with Saethre-Chotzen Syndrome Confirmed by the TWIST1 Gene Analysis | 윤수한, 정선용 |
| 2010 | | Clinical features and outcomes of holoprosencephaly in Korea. | 고정민, 김성환 |
| 2010 | | Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. | 김유찬, 김현주, 정선용, 정연훈 |
| 2010 | | KISS1 gene analysis in Korean girls with central precocious puberty: a polymorphism, p.P110T, suggested to exert a protective effect. | 고정민, 황진순 |
| 2010 | | Genetic variations in the sodium balance-regulating genes ENaC, NEDD4L, NDFIP2 and USP2 influence blood pressure and hypertension. | 진현석 |
| 2010 | | De novo pericentric inversion of chromosome 9 in congenital anomaly. | 정선용 |
| 2010 | | Genetic variations in ATP2B1, CSK, ARSG and CSMD1 loci are related to blood pressure and/or hypertension in two Korean cohorts. | 진현석 |
| 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 | | Partial tetrasomy of chromosome 22q11.1 resulting from a supernumerary isodicentric marker chromosome in a boy with cat-eye syndrome. | 고정민, 배기수 |
| 2010 | | Type 2 Diabetes Genetic Association Database manually curated for the study design and odds ratio. | 진현석 |
| 2010 | | Influence of parental origin of the X chromosome on physical phenotypes and GH responsiveness of patients with Turner syndrome. | 고정민 |
| 2010 | | Recapitulation of two genomewide association studies on blood pressure and essential hypertension in the Korean population. | 진현석 |
| 2010 | | Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. | 고정민 |
| 2010 | | Acute myeloid leukemia with t(16;21)(q24;q22) and eosinophilia: case report and review of the literature. | 김현주, 박일중, 박준은, 이위교, 조성란 |
| 2010 | | Non-synonymous single-nucleotide polymorphisms associated with blood pressure and hypertension. | 진현석 |
