Search Results1-11 of  11

  • Lee Tomoko ID: 9000242674323

    Articles in CiNii:1

    • Differences in carrier frequency between mothers of Duchenne and Becker muscular dystrophy patients (2014)
  • Lee Tomoko ID: 9000322731298

    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)
  • Lee Tomoko ID: 9000356876424

    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)
  • LEE Tomoko ID: 9000018797659

    Articles in CiNii:5

    • Extubation from Artificial Respiration Using Noninvasive Positive Pressure Ventilation and Mechanically Assisted Coughing in a Spinal Muscular Atrophy Type I Case (2011)
    • Exon skipping therapy for Duchenne muscular dystrophy (2011)
    • Novel therapies for Duchenne muscular dystrophy (2014)
  • LEE Tomoko ID: 9000248221619

    Department of Pediatrics, Kobe University Graduate School of Medicine (2013 from CiNii)

    Articles in CiNii:1

    • Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28 (2013)
  • Lee Tomoko ID: 9000242079328

    Department of Pediatrics, Kobe University Graduate School of Medicine, Japan (2013 from CiNii)

    Articles in CiNii:1

    • Rapid Progression of Neuromuscular Disorder Related Cardiomyopathy in a Young Patient (2013)
  • Lee Tomoko ID: 9000279202625

    Department of Pediatrics, Graduate School of Medicine, Kobe University (2014 from CiNii)

    Articles in CiNii:1

    • Phosphorothioate Modification of Chimeric 2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Oligonucleotides Increases Dystrophin Exon 45 Skipping Capability and Reduces Cytotoxicity (2014)
  • Lee Tomoko ID: 9000283719477

    Department of Pediatrics, Kobe University Graduate School of Medicine (2014 from CiNii)

    Articles in CiNii:1

    • Clinical manifestations of three neonates with family histories of Menkes disease (2014)
  • Lee Tomoko ID: 9000283719557

    神戸大学大学院医学研究科小児科学 (2014 from CiNii)

    Articles in CiNii:1

    • Clinical manifestations of Menkes disease vary according to patient's genotype and the initiation time of treatment with copper-histidine injections (2014)
  • Lee Tomoko ID: 9000378105027

    Articles in CiNii:1

    • 2'-O-Methyl RNA/Ethylene-Bridged Nucleic Acid Chimera Antisense Oligonucleotides to Induce Dystrophin Exon 45 Skipping (2017)
  • Lee Tomoko ID: 9000402942203

    Articles in CiNii:1

    • Two closely spaced mutations in cis result in Ullrich congenital muscular dystrophy (2019)
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