Werke:
- Genetics of inherited cornification disorders: identification and characterization of ichthyosis-related gene defects by functional studies
- Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4
- Genetical, clinical, and functional analysis of a large international cohort of patients with autosomal recessive congenital ichthyosis due to mutations in NIPAL4