All Stories

  1. Prenatal diagnosis facilitated prompt enzyme replacement therapy for prenatal benign hypophosphatasia

    Article • Journal of Obstetrics and Gynaecology, July 2019, Taylor & Francis

    Yusuke Mitani, Dr Yo Niida, Hiroshi Fujiwara

  2. Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2 : Differential diagnosis in a case with congenital diaphragm eventration

    Article • Congenital Anomalies, April 2018, Wiley

    Dr Yo Niida

  3. A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: A recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome

    Article • Congenital Anomalies, April 2017, Wiley

    Dr Yo Niida

  4. Cartilage-hair hypoplasia associated with isolated hypoganglionosis: A case report

    Article • Congenital Anomalies, January 2017, Wiley

    Dr Yo Niida

  5. CHIPS for genetic testing to improve a regional clinical genetic service

    Article • Clinical Genetics, September 2014, Wiley

    Dr Yo Niida