Reanalysis of exome sequencing data reveals a treatable neurometabolic origin in two previously undiagnosed siblings with neurodevelopmental disorder.

Susgun S., Kesim Y., Khalilov D., Sirin N. G., Gezegen H., Salman B., ...More

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, vol.44, no.7, pp.2527-2540, 2023 (SCI-Expanded) identifier identifier identifier