Saito Kayoko | Institute Of Medical Genetics

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著作論文

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)
Unified method for Bayesian calculation of genetic risk
IS-71 Placenta as a Potential Source of Mesenchymal Stem Cells for Cellular and Gene Therapy(Group9 Perinatology3,International Session)
The mildest known case of Fukuyama-type congenital muscular dystrophy
Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications
A Case of Fukuyama Congenital Muscular Dystrophy Associated with Negative Electroretinograms
New insights into the pathogenesis of spinal muscular atrophy
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease : nonsense mutation probably causes a recessive phenotype
Nevoid basal cell carcinoma syndrome with cleft lip and palate associated with the novel PTCH gene mutations

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