Shirahata Emi | Department Of Pediatrics Yamagata University School Of Medicine

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著作論文

Genetic Analysis of Shwachman-Diamond Syndrome : Phenotypic Heterogeneity in Patients Carrying Identical SBDS Mutations
Neonatal hyperbilirubinemia and the bilirubin uridine diphosphate-glucuronosyltransferase gene : The common -3263T > G mutation of phenobarbital response enhancer module is not associated with the neonatal hyperbilirubinemia in Japanese
Congenital Central Hypoventilation Syndrome : A Novel Mutation of the RET Gene in an Isolated Case
Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

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