Search Results1-16 of  16

  • Miyatake Satoko ID: 9000290355413

    Articles in CiNii:1

    • Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model : an 'exome-first' approach (2015)
  • Miyatake Satoko ID: 9000324663244

    Articles in CiNii:1

    • De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia (2016)
  • Miyatake Satoko ID: 9000326637977

    Articles in CiNii:1

    • Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016)
  • Miyatake Satoko ID: 9000329423400

    Articles in CiNii:1

    • WDR45 mutations in three male patients with West syndrome (2016)
  • Miyatake Satoko ID: 9000356876350

    Articles in CiNii:1

    • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (2017)
  • MIYATAKE Satoko ID: 9000000306844

    Department of Nutritional Pathology, Faculty of Nutrition, Kobe Gakuin University (2000 from CiNii)

    Articles in CiNii:1

    • Lipopolysaccharide-induced cytokine secretion by Kupffer cell cultures from germfree and conventional mice (2000)
  • MIYATAKE Satoko ID: 9000001362217

    Department of Human Genetics, Nagasaki University School of Medicine (1996 from CiNii)

    Articles in CiNii:1

    • TWO POLYMORPHIC AvaI AND HhaI SITES IN A DIFFERENTIALLY METHYLATED REGION OF THE HUMAN H19 GENE (1996)
  • MIYATAKE Satoko ID: 9000248221692

    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)
  • MIYATAKE Satoko ID: 9000256524095

    国立病院機構東埼玉病院神経内科 (2008 from CiNii)

    Articles in CiNii:1

    • Validation of the Japanese Version of the Unified Multiple System Atrophy Rating Scale (UMSARS) (2008)
  • Miyatake Satoko ID: 9000021352368

    Department of Neurology, Higashi-Saitama National Hospital (2008 from CiNii)

    Articles in CiNii:1

    • Mental Retardation and Lifetime Events of Duchenne Muscular Dystrophy in Japan (2008)
  • Miyatake Satoko ID: 9000021383851

    Department of Neurology, Higashi-Saitama National Hospital (2008 from CiNii)

    Articles in CiNii:1

    • Heart Rate Variability and Hypercapnia in Duchenne Muscular Dystrophy (2008)
  • Miyatake Satoko ID: 9000022066972

    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan|Department of Neurology, National Hospital Organization Higashi-Saitama Hospital, Japan (2012 from CiNii)

    Articles in CiNii:1

    • A Novel <i>SACS</i> Mutation in an Atypical Case with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) (2012)
  • Miyatake Satoko ID: 9000240056781

    Department of Human Genetics, 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)
  • Miyatake Satoko ID: 9000377395405

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2017 from CiNii)

    Articles in CiNii:1

    • A case of <i>COL4A1</i>-related disorder with a variety of brain imaging findings (2017)
  • Miyatake Satoko ID: 9000398280006

    Clinical Genetics Department, Yokohama City University Hospital, Yokohama, Kanagawa (2018 from CiNii)

    Articles in CiNii:1

    • A preterm Wolf-Hirschhorn syndrome boy, who has also duplication of 19q, shows unexpected clinical course (2018)
  • Miyatake Satoko ID: 9000403316559

    Articles in CiNii:1

    • Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation (2014)
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