NUMAKURA CHIKAHIKO | Department of Pediatrics, Yamagata University School of Medicine

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著作論文

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
Deletion and Nonsense Mutations of the Connexin 32 Gene Associated with Charcot-Marie-Tooth Disease
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
Neurofilament light chain polypeptide gene mutations in Charcot-Marie-Tooth disease : nonsense mutation probably causes a recessive phenotype
Phenotypic variability in a family with Townes-Brocks syndrome
Compound heterozygous PMP22 deletion mutations causing severe Charcot-Marie-Tooth disease type 1

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