Browsing by Keyword : Heterozygote
Showing results 8 to 16 of 16
Pub Year | | Title | Author(s) |
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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