Publication Human sex reversal is caused by duplication or deletion of core enhancers upstream of SOX9.
Publication 30 years of developmental haemostasis: what have we learnt and how are we applying this knowledge.
Publication Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Publication Spontaneous infant movements that predict later cerebral palsy: reply to Hadders-Algra and Philippi.
