Search Results1-12 of  12

  • Numakura Chikahiko ID: 9000010064866

    Articles in CiNii:1

    • Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy (2005)
  • NUMAKURA CHIKAHIKO ID: 9000001195363

    Department of Pediatrics, Yamagata University School of Medicine (2011 from CiNii)

    Articles in CiNii:7

    • Congenital Central Hypoventilation Syndrome : A Novel Mutation of the RET Gene in an Isolated Case (2002)
    • Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease (2004)
    • Molecular diagnosis and clinical onset of Charcot-Marie-Tooth disease in Japan (2011)
  • NUMAKURA CHIKAHIKO ID: 9000257869448

    Department of Pediatrics, Yamagata University School of Medicine (2002 from CiNii)

    Articles in CiNii:1

    • Congenital Central Hypoventilation Syndrome: A Novel Mutation of the RET Gene in an Isolated Case. (2002)
  • NUMAKURA Chikahiko ID: 9000001710379

    Endocrinology and Metabolism Unit, Tokyo Metropolitan Kiyose Children's Hospital (2006 from CiNii)

    Articles in CiNii:1

    • Genetic and enzymatic analysis for two Japanese patients with idiopathic infantile arterial calcification (2006)
  • NUMAKURA Chikahiko ID: 9000004141168

    Articles in CiNii:13

    • A Case with Lipoprotein Glomerulopathy (2002)
    • Osteoporosis during childhood (2005)
    • Charcot-Marie-Tooth 病2A型におけるミトコンドリア GTPase Mitofusin 2 遺伝子異常について (2004)
  • NUMAKURA Chikahiko ID: 9000018776667

    Department of Pediatrics, Yamagata University School of Medicine (2011 from CiNii)

    Articles in CiNii:1

    • A case of progressive familial intrahepatic cholestasis type 1 with compound heterozygous mutations of ATP8B1 (2011)
  • NUMAKURA Chikahiko ID: 9000248218940

    Department of Pediatrics, Yamagata University School of Medicine (2012 from CiNii)

    Articles in CiNii:1

    • Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children (2012)
  • Numakura Chikahiko ID: 9000022060502

    Department of Pediatrics, Faculty of Medicine, Yamagata University, Japan (2012 from CiNii)

    Articles in CiNii:1

    • An Elderly Japanese Patient with Adult-onset Type II Citrullinemia with a Novel D493G Mutation in the <i>SLC25A13</i> Gene (2012)
  • Numakura Chikahiko ID: 9000257805181

    Department of Pediatrics, Yamagata University School of Medicine, Yamagata 990-9585, Japan (2012 from CiNii)

    Articles in CiNii:1

    • Association of vitamin D-related gene polymorphisms with manifestation of vitamin D deficiency in children (2012)
  • Numakura Chikahiko ID: 9000257868602

    Department of Pediatrics, Yamagata University School of Medicine (1999 from CiNii)

    Articles in CiNii:1

    • Deletion and Nonsense Mutations of the Connexin 32 Gene Associated with Charcot-Marie-Tooth Disease. (1999)
  • Numakura Chikahiko ID: 9000345255380

    Department of Pediatrics, Yamagata University School of Medicine (2016 from CiNii)

    Articles in CiNii:1

    • Effectiveness of Medium-Chain Triglyceride Oil Therapy in Two Japanese Citrin-Deficient Siblings: Evaluation Using Oral Glucose Tolerance Tests (2016)
  • Numakura Chikahiko ID: 9000367422601

    Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan|The Committee on Mass Screening of the Japanese Society for Pediatric Endocrinology (2017 from CiNii)

    Articles in CiNii:1

    • Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan (2017)
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