Search Results1-20 of  92

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  • Matsuo Masafumi ID: 9000322731305

    Articles in CiNii:1

    • Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother (2016)
  • Matsuo Masafumi ID: 9000356876427

    Articles in CiNii:1

    • Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS (2017)
  • MATSUO MASAFUMI ID: 9000001586440

    Department of Pediatrics, Kobe University Graduate School of Medicine (2005 from CiNii)

    Articles in CiNii:1

    • Poor correlation between hemolysis and jaundice in glucose 6-phosphate dehydrogenase-deficient babies (2005)
  • MATSUO MASAFUMI ID: 9000001900071

    Department of Pediatrics, Kobe University Graduate School of Medicine (2007 from CiNii)

    Articles in CiNii:1

    • Deletion analyses of SMN1 and NAIP genes in Malaysian spinal muscular atrophy patients (2007)
  • MATSUO Masafumi ID: 9000000436719

    Division of Genetics,International Center for Medical Reserch, Kobe University school of Medicine (1996 from CiNii)

    Articles in CiNii:1

    • Duchenne/Becker muscular dystrophy:from molecular diagnosis to gene therapy (1996)
  • MATSUO Masafumi ID: 9000000844628

    Deivision of Genetics, International Center of Medical Research, Kobe University School of Medicine (1999 from CiNii)

    Articles in CiNii:1

    • Angiotensinogen and Angiotensin-Converting Enzyme Genotypes, and Day and Night Blood Pressures in Elderly Japanese Hypertensive (1999)
  • MATSUO Masafumi ID: 9000001361799

    Division of Genetics, International Center for Medical Research, Kobe University School of Medicine (1995 from CiNii)

    Articles in CiNii:1

    • C TO T TRANSITION AT THE FIRST NUCLEOTIDE OF CODON 63 OF THE β-GLOBIN GENE CORRESPONDING TO HEMOGLOBIN M-SASKATOON IN AN INDONESIAN BOY (1995)
  • MATSUO Masafumi ID: 9000001362590

    Division of Genetics, International Center for Medical Research, Kobe University School of Medicine (1997 from CiNii)

    Articles in CiNii:1

    • DELETION OF TWENTY SEVEN NUCLEOTIDES WITHIN EXON 11 OF THE BAND 3GENE IDENTIFIED IN OVALOCYTOSIS IN LOMBOK ISLAND, INDONESIA (1997)
  • MATSUO Masafumi ID: 9000001362984

    Division of Genetics, International Center for Medical Research, Kobe University School of Medicine (1997 from CiNii)

    Articles in CiNii:1

    • MET 235 THR POLYMORPHISM OF ANGIOTENSINOGEN IN INDONESIANS (1997)
  • MATSUO Masafumi ID: 9000001557909

    Division of Genetics, ICMR, Kobe University (1998 from CiNii)

    Articles in CiNii:1

    • The gene for mesomelic dysplasia Kantaputra type is mapped to chromosome 2q24-q32 (1998)
  • MATSUO Masafumi ID: 9000001660343

    Department of Pediatrics, Kobe University Graduate School of Medicine (2005 from CiNii)

    Articles in CiNii:1

    • Maple Syrup Urine Disease : from the Clinics to the Lab and back to the Clinics (2005)
  • MATSUO Masafumi ID: 9000001963971

    Department of Pediatrics, Kobe University Graduate School of Medicine (2009 from CiNii)

    Articles in CiNii:2

    • A novel approach to identify Duchenne muscular dystrophy patients for aminoglycoside antibiotics therapy (2005)
    • A 2-bp deletion in exon 74 of the dystrophin gene does not clearly induce muscle weakness (2009)
  • MATSUO Masafumi ID: 9000001999873

    Department of Pediatrics, Kobe University School of Medicine (2007 from CiNii)

    Articles in CiNii:1

    • Mutational Spectrum of MSUD in the Philippines (2007)
  • MATSUO Masafumi ID: 9000002230384

    Department of Medical Rehabilitation, Kobe Gakuin University (2012 from CiNii)

    Articles in CiNii:61

    • Severe neonatal nemaline myopathy with delayed maturation of muscle (1996)
    • Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrobe c oxidase dificiency (1996)
    • Cardiac Involvement in a Family with Becker Muscular Dystrophy. (1995)
  • MATSUO Masafumi ID: 9000014546095

    Department of Pediatrics, Kobe University Graduate School of Medicine (2003 from CiNii)

    Articles in CiNii:5

    • Interactions of thyroid specific transcription factor 2 (TTF2) with TTF1 and PAX8 : TTF2 is able to stimulate the transcriptional activity of TTF1 and PAX8 on the promoter of the thyroglobulin gene (2003)
    • Only the younger brother of two brothers of Becker muscular dystrophy with same deletion of exon 13 of the dystrophin gene shows cardiopathy (1995)
    • A common mutation in methylenetetrahydrofolate reductase gene and high blood pressure among the Japanese population (1995)
  • MATSUO Masafumi ID: 9000016423034

    Department of Pediatrics, Kobe University Graduate School of Medicine (2008 from CiNii)

    Articles in CiNii:1

    • Early diagnosis of maple syrup urine disease using polymerase chain reaction-based mutation detection (2008)
  • MATSUO Masafumi ID: 9000021847802

    Department of Pediatrics (1989 from CiNii)

    Articles in CiNii:1

    • A Case of Leprechaunism with the Disorders of Insulin-like Growth Factor-I (IGF-I) /Somatomedin C (SMC) Binding Protein and Its Receptor (1989)
  • MATSUO Masafumi ID: 9000107308773

    Department of Medical Rehabilitation, Faculty of Rehabilitation, Kobegakuin University (2012 from CiNii)

    Articles in CiNii:1

    • Challenges of supplementary treatment for neurodegenerative diseases (2012)
  • MATSUO Masafumi ID: 9000107313484

    Department of Pediatrics, Kobe University Graduate School of Medicine (2003 from CiNii)

    Articles in CiNii:1

    • High prevalence of Southeast Asian ovalocytosis in Malays with distal renal tubular acidosis (2003)
  • MATSUO Masafumi ID: 9000107388144

    Department of Pediatrics, Kobe University Graduate School of Medicine (2012 from CiNii)

    Articles in CiNii:1

    • Valproic acid increases SMN2 expression and modulates SF2/ASF and hnRNPA1 expression in SMA fibroblast cell lines (2012)
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