Browsing by Keyword : Heterozygote
Showing results 1 to 16 of 16
| Pub Year | | Title | AJOU Author(s) |
| 2016 | | Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma | 김승현, 신유섭, 예영민 |
| 2010 | | Autosomal recessive multiple epiphyseal dysplasia in a Korean girl caused by novel compound heterozygous mutations in the DTDST (SLC26A2) gene. | 김옥화 |
| 2012 | | Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients | 김구상 |
| 2011 | | Deletion of SNAP-23 results in pre-implantation embryonic lethality in mice | 서영호 |
| 2013 | | Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study. | 정윤석, 진현석 |
| 1995 | | Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1. | 한시훈 |
| 2014 | | Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. | 손영배 |
| 2015 | | Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta. | 손영배 |
| 2014 | | Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness. | 이기영, 임신영, 정선용 |
| 2005 | | Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population. | 김진홍, 정재연, 조성원, 함기백 |
| 2005 | | Mutation analysis of the MCM gene in Korean patients with MMA. | 김성환, 박준은, 정조원, 황진순 |
| 2012 | | Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease | 이용희 |
| 2012 | | PAPSS2 mutations cause autosomal recessive brachyolmia | 김옥화 |
| 2012 | | The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia | 박준은 |
| 2000 | | The first successful prenatal diagnosis on a Korean family with citrullinemia. | 한시훈 |
| 2012 | | Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence | 손영배 |
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