E.G. Medici-van den Herik

Isobutyryl‐CoA dehydrogenase deficiency associated with autism in a girl without an alternative genetic diagnosis by trio whole exome sequencing: A case report

M. V. van Slegtenhorst, K. Stuurman, Tahsin Stefan Barakat, 2021, Molecular genetics & genomic medicine.

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

K. Kandaswamy, E. Aronica, P. Bauer, 2019, Acta Neuropathologica.

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

K. Kandaswamy, E. Aronica, P. Bauer, 2019, bioRxiv.

Arterioectatic Spinal Angiopathy of Childhood: Clinical, Imaging, Laboratory, Histologic, and Genetic Description of a Novel CNS Vascular Pathology

S. Hetts, V. Narayanan, S. Roosendaal, 2022, American Journal of Neuroradiology.

Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire

J. Fock, D. Vrijens, J. Vles, 2021, Life.

De novo TRPV4 Leu619Pro variant causes a new channelopathy characterised by giant cell lesions of the jaws and skull, skeletal abnormalities and polyneuropathy

A. Berghuis, G. Mancini, M. Wilke, 2021, Journal of Medical Genetics.

Functional Analysis of Genetic Variation in the SECIS Element of Thyroid Hormone Activating Type 2 Deiodinase.

P. Larsen, W. Klootwijk, P. J. van der Spek, 2018, The Journal of clinical endocrinology and metabolism.