Search Results1-20 of  75

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  • Matsumoto Naomichi ID: 9000016604458

    Articles in CiNii:1

    • Whole genome approach followed by panel discussion: whole genome approach to the epilepsy-related gene (Proceeding of the intensive course for translational science: to translate extensive basic research data into clinical research and practice) (2010)
  • Matsumoto Naomichi ID: 9000324662906

    Articles in CiNii:1

    • De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016)
  • Matsumoto Naomichi ID: 9000324663247

    Articles in CiNii:1

    • De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia (2016)
  • Matsumoto Naomichi ID: 9000326637659

    Articles in CiNii:1

    • EDITORIAL : A message for 2016 (2016)
  • Matsumoto Naomichi ID: 9000326637982

    Articles in CiNii:1

    • Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016)
  • Matsumoto Naomichi ID: 9000326638184

    Articles in CiNii:1

    • Human genetic variation database, a reference database of genetic variations in the Japanese population (2016)
  • Matsumoto Naomichi ID: 9000329423404

    Articles in CiNii:1

    • WDR45 mutations in three male patients with West syndrome (2016)
  • Matsumoto Naomichi ID: 9000333078496

    Articles in CiNii:1

    • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016)
  • Matsumoto Naomichi ID: 9000333078511

    Articles in CiNii:1

    • Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism (2016)
  • Matsumoto Naomichi ID: 9000345445652

    Articles in CiNii:1

    • Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia (2017)
  • Matsumoto Naomichi ID: 9000345445698

    Articles in CiNii:1

    • Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 (2017)
  • MATSUMOTO Naomichi ID: 9000347683034

    Articles in CiNii:1

    • Successful Catheter Ablation of Two Distinct Premature Ventricular Complexes Arising from Right Ventricular Outflow Tract Guided by EnSite NavX 3-D Mapping System with Multielectrode Basket Catheter (2017)
  • Matsumoto Naomichi ID: 9000356596920

    Articles in CiNii:1

    • Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations (2017)
  • Matsumoto Naomichi ID: 9000356664794

    Articles in CiNii:1

    • A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome (2017)
  • Matsumoto Naomichi ID: 9000356876353

    Articles in CiNii:1

    • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (2017)
  • Matsumoto Naomichi ID: 9000356876569

    Articles in CiNii:1

    • Novel KCNB1 mutation associated with non-syndromic intellectual disability (2017)
  • MATSUMOTO NAOMICHI ID: 9000001112908

    Department of Human Genetics, School of Medicine, Nagasaki University (2003 from CiNii)

    Articles in CiNii:1

    • Duplication (22)(q11.22-q11.23) without coloboma and cleft lip or palate (2003)
  • MATSUMOTO Naomichi ID: 9000000779169

    Department of Internal Medicine, School of Medicine (1995 from CiNii)

    Articles in CiNii:1

    • Plasma Free and Sulfoconjugated Dopamine before and after a Half-Marathon (1995)
  • MATSUMOTO Naomichi ID: 9000001803982

    CREST, Japan Science and Technology Agency (2005 from CiNii)

    Articles in CiNii:1

    • Refining chromosomal region critical for Down syndrome-related heart defects with a case of cryptic 21q22.2 duplication (2005)
  • MATSUMOTO Naomichi ID: 9000001859087

    Department of Human Genetics, Yokohama City University Graduate School of Medicine (2007 from CiNii)

    Articles in CiNii:1

    • Recent progress in genetics of Marfan syndrome and Marfan-associated disorders (2007)
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