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