Jikke-mien F. Niermeijer
Tilburg, NB, Netherlands
Last Updated: 09/26/2026
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Found 13 publications
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
PTPN1 -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance.
Journal: medRxiv : the preprint server for health sciences
Published: April 10, 2026
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 20, 2023
Pediatric acute flaccid myelitis: Evaluation of diagnostic criteria and differentiation from other causes of acute flaccid paralysis.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: February 09, 2023
De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 29, 2022
Epidemiology of acute flaccid myelitis in children in the Netherlands, 2014 to 2019.
Journal: Euro surveillance : bulletin Europeen sur les maladies transmissibles = European communicable disease bulletin
Published: October 21, 2022
Evaluation of management and guideline adherence in children with mild traumatic brain injury.
Journal: Brain injury
Published: May 19, 2018
Incidence and outcome of acquired demyelinating syndromes in Dutch children: update of a nationwide and prospective study.
Journal: Journal of neurology
Published: December 22, 2017
Correlation between clinical and histologic findings in the human neonatal hippocampus after perinatal asphyxia.
Journal: Journal of neuropathology and experimental neurology
Published: March 11, 2014
Fcγ receptor IIIA genotype is associated with rituximab response in antimyelin-associated glycoprotein neuropathy.
Journal: Journal of neurology, neurosurgery, and psychiatry
Published: February 04, 2014
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
Journal: Orphanet journal of rare diseases
Published: October 31, 2013
Last Updated: 09/26/2026