Prevalence of congenital malformations and genetic diseases in Korea

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Single nucleotide polymorphisms and the haplotype in the DEFB1 gene are associated with atopic dermatitis in a Korean population
Feasibility of gene therapy in Gaucher disease using an adeno-associated virus vector
Down-regulation of Bcl-2 in the fetal brain of the Gaucher disease mouse model : a possible role in the neuronal loss
Association study of semaphorin 7a (sema7a) polymorphisms with bone mineral density and fracture risk in postmenopausal Korean women
The molecular basis of phenylketonuria in Koreans
Characterization of 458 single nucleotide polymorphisms of disease candidate genes in the Korean population
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria
Association of single nucleotide polymorphisms in the IL-12 (IL-12A and B) and IL-12 receptor (IL-12Rβ1 and β2) genes and gene-gene interactions with atopic dermatitis in Koreans
The Molecular Basis of Phenylketonuria in Koreans
Identification of cartilage oligomeric matrix protein (COMP) gene mutations in patients with pseudoachondroplasia and multiple epiphyseal dysplasia
Prevalence of congenital malformations and genetic diseases in Korea
Association analysis of COMT polymorphisms with schizophrenia and smooth pursuit eye movement abnormality

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