Publications
Export 2 results:
Author Title [ Year] Filters: Keyword is Central Nervous System Neoplasms [Clear All Filters]
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG. Brain Dev 42, 539-545 (2020).
Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis. Am J Hum Genet 98, 579-587 (2016).