Browsing by Keyword : Heterozygote

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Showing results 1 to 17 of 17

Publication YearTitleAJOU
Author
2009A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene.고정민
2006A case report of familial benign hypocalciuric hypercalcemia: a mutation in the calcium-sensing receptor gene.김대중이관우김세중정윤석
2008Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease.용석우
2016Association of autophagy related gene polymorphisms with neutrophilic airway inflammation in adult asthma김승현신유섭예영민
2012Characteristics of double heterozygosity for BRCA1 and BRCA2 germline mutations in Korean breast cancer patients김구상
2011Deletion of SNAP-23 results in pre-implantation embryonic lethality in mice서영호
2013Genetic and clinical characteristics of korean patients with isolated hypoparathyroidism: from the Korean hypopara registry study.진현석정윤석
1995Heterozygosity for an exon 12 splicing mutation and a W234G missense mutation in an American child with chronic tyrosinemia type 1.한시훈
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2014Identification 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.이기영정선용임신영
2005Lack of association between hepatitis B virus infection and polymorphism of mannose-binding lectin gene in Korean population.정재연조성원함기백김진홍
2005Mutation analysis of the MCM gene in Korean patients with MMA.정조원박준은김성환황진순
2012Novel frameshift mutation (Pro171fsX21) in neonatal type 2 Gaucher's disease이용희
2012PAPSS2 mutations cause autosomal recessive brachyolmia김옥화
2012The first study on nucleotide-level identification of Hb Koriyama in a patient with severe hemolytic anemia박준은
2000The first successful prenatal diagnosis on a Korean family with citrullinemia.한시훈
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
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