F. Radwan

Null Mutation in PGAP1 Impairing Gpi-Anchor Maturation in Patients with Intellectual Disability and Encephalopathy

M. Aigner, H. Sticht, A. Reis, 2014, PLoS genetics.

Mutations in the mitochondrial gene C12ORF65 lead to syndromic autosomal recessive intellectual disability and show genotype phenotype correlation.

A. Ekici, R. Abou Jamra, A. Reis, 2013, European journal of medical genetics.