スポンサーリンク
Nature publishing group | 論文
- Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities : clinical and molecular characterization
- A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family
- Mitochondrial DNA analysis of Yayoi period human skeletal remains from the Doigahama site
- A functional polymorphism (-603A→G) in the tissue factor gene promoter is associated with adult-onset asthma
- Analysis of SCN1A mutation and parental origin in patients with Dravet syndrome
- Construction of a prediction model for type 2 diabetes mellitus in the Japanese population based on 11 genes with strong evidence of the association
- Variations in the WNK1 gene modulates the effect of dietary intake of sodium and potassium on blood pressure determination
- Hair roots as an mRNA source for mutation analysis of Usher syndrome-causing genes
- Mutation analysis of the MYO7A and CDH23 genes in Japanese patients with Usher syndrome type 1
- Novel USH2A mutations in Japanese Usher syndrome type 2 patients : marked differences in the mutation spectrum between the Japanese and other populations
- The key role of patrilineal inheritance in shaping the genetic variation of Dagestan highlanders
- The HLA genomic loci map : expression, interaction, diversity and disease
- A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
- Meta-analysis of genome-wide association scans for genetic susceptibility to endometriosis in Japanese population
- Genetic correlation between autistic traits and IQ in a population-based sample of twins with autism spectrum disorders (ASDs)
- Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
- Combined effect of longevity-associated mitochondrial DNA 5178 C/A polymorphism and coffee consumption on the risk of hyper-LDL cholesterolemia in middle-aged Japanese men
- A genome-wide association study identifies ITGA9 conferring risk of nasopharyngeal carcinoma
- Association study of genetic polymorphism in ABCC4 with cyclophosphamide-induced adverse drug reactions in breast cancer patients
- Single nucleotide polymorphism in ABCG2 is associated with irinotecan-induced severe myelosuppression