Search Results1-9 of  9

  • Ohba Chihiro ID: 9000248198657

    Articles in CiNii:1

    • De novo WDR45 mutation in a patient showing clinically Rett syndrome with childhood iron deposition in brain (2014)
  • Ohba Chihiro ID: 9000305634735

    Articles in CiNii:1

    • Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita (2015)
  • Ohba Chihiro ID: 9000313182345

    Articles in CiNii:1

    • De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance (2015)
  • Ohba Chihiro ID: 9000326637975

    Articles in CiNii:1

    • Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016)
  • Ohba Chihiro ID: 9000356664792

    Articles in CiNii:1

    • A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome (2017)
  • OHBA Chihiro ID: 9000006084183

    Department of Electrical and Electronic Engineering, Musashi Institute of Technology (2006 from CiNii)

    Articles in CiNii:1

    • An Interpolation Method for Bayer Color Array (2006)
  • OHBA Chihiro ID: 9000017397059

    Department of Clinical Neurology and Stroke Medicine, Graduate School of Medical Sciences, Yokohama City University (2010 from CiNii)

    Articles in CiNii:2

    • A case of acute disseminated encephalomyelitis with bilateral temporal lobes hemorrhage (2010)
    • 認知症 (特集 生活習慣病は進化病である--生活習慣に対応できない身体) -- (進化による疾病(生活習慣病)の変化) (2009)
  • OHBA Chihiro ID: 9000248221695

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2012 from CiNii)

    Articles in CiNii:1

    • Sibling cases of moyamoya disease having homozygous and heterozygous c.14576G>A variant in RNF213 showed varying clinical course and severity (2012)
  • Ohba Chihiro ID: 9000240056779

    Department of Human Genetics, Yokohama City University, Japan|Department of Clinical Neurology and Stroke Medicine, Yokohama City University, Japan (2013 from CiNii)

    Articles in CiNii:1

    • Identification of a Novel Homozygous <i>SPG7</i> Mutation in a Japanese Patient with Spastic Ataxia: Making an Efficient Diagnosis Using Exome Sequencing for Autosomal Recessive Cerebellar Ataxia and Spastic Paraplegia (2013)
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