秋山 和広

研究成果

年別の研究成果 2015 2015 2020

• 3 Article
• 1 Review article

年別の研究成果

年別の研究成果

検索結果

• 2015

  Exome Sequencing Identification of EP300 Mutation in a Proband with Coloboma and Imperforate Anus: Possible Expansion of the Phenotypic Spectrum of Rubinstein-Taybi Syndrome

  Masuda, K., Akiyama, K., Arakawa, M., Nishi, E., Kitazawa, N., Higuchi, T., Katou, Y., Shirahige, K. & Izumi, K., 2015 7月 25, In: Molecular Syndromology. 6, 2, p. 99-103 5 p.

  研究成果: Review article › 査読

  Open Access

  • Rubinstein-Taybi Syndrome 100%
  • Imperforate Anus 87%
  • Coloboma 85%
  • Exome 72%
  • Mutation 33%
  11 被引用数 (Scopus)