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Division Of Functional Genomics Research Center For Bioscience And Technology Tottori University | 論文
- Intracerebral cell transplantation therapy for murine GM1 gangliosidosis
- Antisense suppression of TSC1 gene product, hamartin, enhances neurite outgrowth in NGF-treated PC12h cells
- Increased NPC1 mRNA in skin fibroblasts from Niemann-Pick disease type C patients
- Novel TSC1 and TSC2 mutations in Japanese patients with tuberous sclerosis complex
- A novel interstitial deletion of KAL1 in a Japanese family with Kallmann syndrome
- Fibrillin gene (FBN1) mutations in Japanese patients with Marfan syndrome
- Imprinting status of paternally imprinted DLX5 gene in Japanese patients with Rett syndrome
- 自閉症の遺伝子解明の現状 (特集 発達障害の新たな遺伝子)
- A Cell Line Derived from Sphingomyelinosis Mouse Shows Alterations in Intracellular Cholesterol Metabolism Similar to Those in Type C Niemann-Pick Disease
- 大脳病変が半球性に急性発症、急性増悪を呈した Tay-Sachs 病の1幼児例
- Fibroblast screening for chaperone therapy in β-galactosidosis
- Protective Effect of Neurotropin Against Lipopolysaccharide-Induced Hypotension and Lethality Linked to Suppression of Inducible Nitric Oxide Synthase Induction
- 筋強直性ジストロフィー症 (特集 筋疾患の病態と診断,治療戦略の最前線) -- (病態と診断)
- Prenatal diagnosis of congenital myotonic dystrophy in two Japanese families: direct mutation analysis by a non-radioisotope PCR method and haplotype analysis with flanking DNA markers
- 授乳を介して 1,2,3,4-tetrachlorodibenzo-ρ-dioxin (1,2,3,4-TCDD) に暴露された新生仔ラット肝における抗酸化酵素 (antioxidant enzymes, AOE) mRNAの反応
- Fragile X carrier screening and FMR1 allele distribution in the Japanese population
- Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
- A case of galactosialidosis with a homozygous Q49R point mutation
- Sonic hedgehog expression in Gli3 depressed mouse embryo, Pdn/Pdn
- Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
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