Yamamoto Toshiyuki | Gene Research Center Tottori University Yonago 683-8503 Japan

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著作論文

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
Variations in Clinical Findings of Patients with Identical Tuberous Sclerosis Gene Mutations
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
Pontine hypoplasia in a child with sensorineural deafiness
Mutational analysis of TSC1 and TSC2 genes in Japanese patients with tuberous sclerosis complex
A patient with cerebral palsy whose mother had a traffic accident during pregnancy : a diffuse axonal injury?
Non-radioactive DNA diagnosis for the fragile X syndrome in mentally retarded Japanese males
Angiotensinogen Gene Variation and Hypertension in a Cohort Study in Japanese

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