Search Results1-20 of  37

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  • Saitsu Hirotomo ID: 9000267844692

    Articles in CiNii:1

    • A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation (2014)
  • Saitsu Hirotomo ID: 9000275829396

    Articles in CiNii:1

    • Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly (2014)
  • Saitsu Hirotomo ID: 9000324662896

    Articles in CiNii:1

    • De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016)
  • Saitsu Hirotomo ID: 9000324663233

    Articles in CiNii:1

    • De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia (2016)
  • Saitsu Hirotomo ID: 9000326637981

    Articles in CiNii:1

    • Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016)
  • Saitsu Hirotomo ID: 9000326638160

    Articles in CiNii:1

    • Human genetic variation database, a reference database of genetic variations in the Japanese population (2016)
  • Saitsu Hirotomo ID: 9000329423403

    Articles in CiNii:1

    • WDR45 mutations in three male patients with West syndrome (2016)
  • Saitsu Hirotomo ID: 9000333078494

    Articles in CiNii:1

    • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016)
  • Saitsu Hirotomo ID: 9000356664793

    Articles in CiNii:1

    • A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome (2017)
  • Saitsu Hirotomo ID: 9000356876352

    Articles in CiNii:1

    • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (2017)
  • Saitsu Hirotomo ID: 9000397649637

    Articles in CiNii:1

    • CLINICAL INVESTIGATION : Clinical characteristics of a Japanese patient with Bardet-Biedl syndrome caused by BBS10 mutations (2018)
  • SAITSU Hirotomo ID: 9000001829357

    Department of Anatomy and Developmental Biology, Graduate School of Medicine, Kyoto University (2005 from CiNii)

    Articles in CiNii:1

    • Signaling cascade coordinating growth of dorsal and ventral tissues of the vertebrate brain, with special reference to the involvement of Sonic hedgehog signaling (2005)
  • SAITSU Hirotomo ID: 9000002094126

    京都大学大学院医学研究科生体構造医学講座 (2008 from CiNii)

    Articles in CiNii:8

    • Animal Models for Elucidating the Mechanisms of Prevention of Neural Tube Defects by Folate Supplementation (2005)
    • Development of the Posterior Neural Tube and its Animal Models (2005)
    • Normal and Abnormal Neurulation (2005)
  • SAITSU Hirotomo ID: 9000002185642

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

    Articles in CiNii:5

    • Microarray comparative genomic hybridization analysis of 59 patients with schizophrenia (2008)
    • Breakpoint determination of X;autosome balanced translocations in four patients with premature ovarian failure (2011)
    • De novo 19q13.42 duplications involving NLRP gene cluster in a patient with systemic-onset juvenile idiopathic arthritis (2011)
  • SAITSU Hirotomo ID: 9000018282017

    Department of Human Genetics, Graduate School of Medicine, Yokohama City University (2008 from CiNii)

    Articles in CiNii:1

    • Involvement of the axially condensed tail bud mesenchyme in normal and abnormal human posterior neural tube development (2008)
  • SAITSU Hirotomo ID: 9000107387964

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

    Articles in CiNii:1

    • A girl with early-onset epileptic encephalopathy associated with microdeletion involving CDKL5 (2012)
  • SAITSU Hirotomo ID: 9000248221697

    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)
  • SAITSU Hirotomo ID: 9000256893541

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • The diagnostic utility of exome sequencing in Joubert syndrome and related disorders (2013)
  • SAITSU Hirotomo ID: 9000261672889

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • Exome sequencing identifies a novel INPPL1 mutation in opsismodysplasia (2013)
  • SAITSU Hirotomo ID: 9000301717867

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2015 from CiNii)

    Articles in CiNii:1

    • Intracranial Hemorrhage and Tortuosity of Veins Detected on Susceptibility-weighted Imaging of a Child with a <i>Type IV Collagen α1</i> Mutation and Schizencephaly (2015)
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