Agnies M. Van Eeghen
Amersfoort, UT, Netherlands
Last Updated: 09/26/2026
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Found 74 publications
Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome.
Journal: European journal of human genetics : EJHG
Published: March 31, 2026
Closing the Gap to Interventions for Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND): Protocol for a Longitudinal Study of TAND Severity, Predictors, and Caregiver Well-Being (TANDem-2).
Journal: JMIR research protocols
Published: January 22, 2026
Immunosuppression in down syndrome regression disorder: a prospective observational cohort study.
Journal: Brain communications
Published: January 06, 2026
Co-Creation of the EpiCom Clinical Trial: Bringing the Tuberous Sclerosis Complex Patient Community, Healthcare Professionals, and the Pharmaceutical Industry Together.
Journal: The patient
Published: December 23, 2025
Serum NfL, GFAP, and p-tau217 in adults with drug-resistant epilepsy and intellectual disabilities: Signs of ongoing neural injury.
Journal: Epilepsia
Published: December 23, 2025
Adaptive and cognitive trajectories in adults with drug-resistant epilepsy and intellectual disabilities.
Journal: Epilepsy & behavior : E&B
Published: November 03, 2025
Exploring Parents' Values in Healthcare Decision-Making for Rare Genetic Neurodevelopmental Disorders: A Qualitative Study to Inform Guideline Development.
Journal: Journal of intellectual disability research : JIDR
Published: July 31, 2025
Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.
Journal: Journal of intellectual disability research : JIDR
Published: July 31, 2025
What Matters Most? Developing a Core Patient Reported Outcome Set for Individuals With Genetic Intellectual Disabilities: An International Delphi Study.
Journal: Journal of intellectual disability research : JIDR
Published: July 04, 2025
A qualitative study among guideline developers revealed challenges and strategies for rare disease guideline development.
Journal: Journal of clinical epidemiology
Published: June 17, 2025
Prioritizing topics for a clinical practice guideline on SATB2-associated syndrome: methodological rigor vs clinical usability.
Journal: Journal of clinical epidemiology
Published: June 13, 2025
Potential benefits of l-serine in children with GRIN2B loss-of-function variants: Randomized n-of-1 trials.
Journal: Molecular genetics and metabolism
Published: March 19, 2025
Last Updated: 09/26/2026