Skip to ContentSkip to Navigation
How to find us drs. K. (Katelijne) Bouman

Publications

A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound

Lessons learned from rapid Exome Sequencing(rES)as a standard diagnostic test in a prenatal setting for fetuses with ultrasound abnormalities.

Parental experiences of rapid Exome Sequencing in case of serious ultrasound abnormalities during pregnancy

Clinical implementation of diagnostic whole exome sequencing for fetal multiple congenital anomalies on ultrasound

Implementing fast whole exome sequencing sequencing as diagnostic test for fetal multiple congenital anomalies on ultrasound

Pathogenic variants in glutamyl-tRNA(Gln) amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder

Perinatal follow-up of children born after preimplantation genetic diagnosis between 1995 and 2014

Perinatal death investigations: What is current practice?

Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: Findings from a large European cohort

The impact of national prenatal screening on the time of diagnosis and outcome of pregnancies affected with common trisomies, a cohort study in the Northern Netherlands

Read more