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Publicaties

A metabolic signature for NADSYN1-dependent congenital NAD deficiency disorder

Comprehensive Recommendations for the Clinical Management of Pregnant Women With Noninvasive Prenatal Test Results Suspicious of a Maternal Malignancy

Prenatal cell-free DNA testing of women with pregnancy-associated cancer: a retrospective cross-sectional study

Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study

Erratum: Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study (The American Journal of Human Genetics (2022) 109(6) (1140–1152), (S0002929722002051), (10.1016/j.ajhg.2022.04.018))

Noninvasive Prenatal Test Results Indicative of Maternal Malignancies: A Nationwide Genetic and Clinical Follow-Up Study

Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy

Effect of prenatal screening on trends in perinatal mortality associated with congenital anomalies before and after the introduction of prenatal screening: A population-based study in the Northern Netherlands

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

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