Natalja Bannink
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
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Found 9 publications
Routine RNA-based analysis of potential splicing variants facilitates genomic diagnostics and reveals limitations of in silico prediction tools.
Journal: HGG advances
Published: February 27, 2025
Biallelic and monoallelic variants in EFEMP1 can cause a severe and distinct subtype of heritable connective tissue disorder.
Journal: European journal of human genetics : EJHG
Published: May 30, 2024
Genome-wide diagnostics; after the results the real work begins
Journal: Nederlands tijdschrift voor geneeskunde
Published: February 09, 2021
Ketogenic diet therapy for epilepsy during pregnancy: A case series.
Journal: Seizure
Published: October 15, 2016
Venous hypertension in syndromic and complex craniosynostosis: the abnormal anatomy of the jugular foramen and collaterals.
Journal: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
Published: September 28, 2014
How does obstructive sleep apnoea evolve in syndromic craniosynostosis? A prospective cohort study.
Journal: Archives of disease in childhood
Published: May 25, 2013
Health-related problems and quality of life in patients with syndromic and complex craniosynostosis.
Health-related problems and quality of life in patients with syndromic and complex craniosynostosis.
Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
Published: December 12, 2011
Showing 1-9 of 9
Last Updated: 09/26/2026