All Stories

  1. Haploinsufficiency of R3HDM1 causes mild intellectual disability

    Article • American Journal of Medical Genetics Part A, March 2021, Wiley

    Daisuke Fukushi

  2. Determination of breakpoints for trisomy 2p24.3-pter and monosomy 5p14.3-pter on spina bifida

    Article • American Journal of Medical Genetics Part A, June 2017, Wiley

    Daisuke Fukushi

  3. Phenotype-genotype correlations of PIGO deficiency with variable phenotypes from infantile lethality to mild learning difficulties

    Article • Human Mutation, April 2017, Wiley

    Professor Masahiro Hayakawa, Daisuke Fukushi

  4. Hypoxanthine Guanine Phosphoribosyltransferase (HPRT) Deficiencies:HPRT1Mutations in New Japanese Families and PRPP Concentration

    Article • Nucleosides Nucleotides & Nucleic Acids, April 2014, Taylor & Francis

    Daisuke Fukushi