Evita G. Van Den Herik-Medici
Rotterdam, ZH, Netherlands
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 8 publications
A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands.
Journal: Neuromuscular disorders : NMD
Published: March 06, 2024
Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology.
Journal: AJNR. American journal of neuroradiology
Published: December 28, 2021
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.
Journal: Life (Basel, Switzerland)
Published: June 03, 2021
De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy.
Journal: Journal of medical genetics
Published: September 10, 2020
Isobutyryl-CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report.
Journal: Molecular genetics & genomic medicine
Published: September 03, 2020
Loss of UGP2 in brain leads to a severe epileptic encephalopathy, emphasizing that bi-allelic isoform-specific start-loss mutations of essential genes can cause genetic diseases.
Journal: Acta neuropathologica
Published: October 25, 2019
Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.
Journal: The Journal of clinical endocrinology and metabolism
Published: July 24, 2018
Showing 1-8 of 8
Last Updated: 09/26/2026