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
A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1
Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan
An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the SLC25A13 Gene
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
Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children

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