Search Results1-20 of  34

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  • Nakashima Mitsuko ID: 9000261012198

    Articles in CiNii:1

    • Causative novel PNKP mutations and concomitant PCDH15 mutations in a patient with microcephaly with early-onset seizures and developmental delay syndrome and hearing loss (2014)
  • Nakashima Mitsuko ID: 9000275829383

    Articles in CiNii:1

    • The somatic GNAQ mutation c.548G>A(p.R183Q) is consistently found in Sturge-Weber syndrome (2014)
  • Nakashima Mitsuko ID: 9000275829529

    Articles in CiNii:1

    • Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing (2014)
  • Nakashima Mitsuko ID: 9000290355397

    Articles in CiNii:1

    • SPTAN1 encephalopathy : distinct phenotypes and genotypes (2015)
  • Nakashima Mitsuko ID: 9000324662903

    Articles in CiNii:1

    • De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures (2016)
  • Nakashima Mitsuko ID: 9000324663243

    Articles in CiNii:1

    • De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia (2016)
  • Nakashima Mitsuko ID: 9000326637978

    Articles in CiNii:1

    • Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations (2016)
  • Nakashima Mitsuko ID: 9000326638170

    Articles in CiNii:1

    • Human genetic variation database, a reference database of genetic variations in the Japanese population (2016)
  • Nakashima Mitsuko ID: 9000329423391

    Articles in CiNii:1

    • WDR45 mutations in three male patients with West syndrome (2016)
  • Nakashima Mitsuko ID: 9000333078492

    Articles in CiNii:1

    • De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux (2016)
  • Nakashima Mitsuko ID: 9000356876338

    Articles in CiNii:1

    • PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder (2017)
  • NAKASHIMA Mitsuko ID: 9000002128884

    Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences (2010 from CiNii)

    Articles in CiNii:3

    • Genome-wide linkage analysis and mutation analysis of hereditary congenital blepharoptosis in a Japanese family (2008)
    • Japanese map of the earwax gene frequency : a nationwide collaborative study by Super Science High School Consortium (2009)
    • A type of familial cleft of the soft palate maps to 2p24.2-p24.1 or 2p21-p12 (2010)
  • NAKASHIMA Mitsuko ID: 9000017393231

    Graduate School of Health Science, Hiroshima University (2007 from CiNii)

    Articles in CiNii:1

    • Total Quality Management in Healthcare Organization : Influence and Organizational Change Structure (2007)
  • NAKASHIMA Mitsuko ID: 9000021898749

    Laboratory of Molecular Medicine, Human Genome Center, Institute of Medical Science, The University of Tokyo (2011 from CiNii)

    Articles in CiNii:1

    • Possible involvement of NEDD4 in keloid formation; its critical role in fibroblast proliferation and collagen production (2011)
  • NAKASHIMA Mitsuko ID: 9000256893540

    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)
  • NAKASHIMA Mitsuko ID: 9000261672887

    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)
  • Nakashima Mitsuko ID: 9000002375267

    Articles in CiNii:1

    • A Study on Padding Fabrics in a Collar of Nagajuban (1985)
  • Nakashima Mitsuko ID: 9000022764056

    Articles in CiNii:1

    • Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan. (2008)
  • Nakashima Mitsuko ID: 9000260226965

    Articles in CiNii:1

    • A type of familial cleft of the soft palate maps to 2p24.2–p24.1 or 2p21–p12 (2010)
  • Nakashima Mitsuko ID: 9000283154536

    Southern TOHOKU Research Institute for Neuroscience (2015 from CiNii)

    Articles in CiNii:1

    • Trial of Interprofessional Education for Effective IPW (2015)
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