Hehir-Kwa, J.Y.

Update Persondata

• cancer
• cell
• children
• chromosome
• gene
• lesions
• mutations
• patients

Publications

(the most recent at the top)

Intragenic deletion in DYRK1A leads to mental retardation and primary microcephaly

De novo copy number variants associated with intellectual disability have a paternal origin and age bias

SNP array analysis in constitutional and cancer genome diagnostics-copy number variants, genotyping and quality control.

Homozygosity mapping in outbred families with mental retardation

High-resolution homozygosity mapping is a powerful tool to detect novel mutations causative of autosomal recessive RP in the Dutch population

All publications..