"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency : findings from a retrospective cohort study"
Bron
Acta neurologica Belgica - ISSN 0300-9009- (2025) p.
Protocol for EpiCom : a phase 3b/4 study of behavioral outcomes following adjunctive cannabidiol for the management of tuberous sclerosis complex-associated neuropsychiatric disorders (TAND)
Bron
PLoS ONE - ISSN 1932-6203-20:6 (2025) p. 1-17
Validation of the self-report quantified Tuberous Sclerosis Complex-Associated Neuropsyciatric Disorders Checklist (TAND-SQ)
Bron
Orphanet journal of rare diseases - ISSN 1750-1172-20:1 (2025) p. 1-17
mTOR pathway diseases : challenges and opportunities from bench to bedside and the mTOR node
Bron
Orphanet journal of rare diseases - ISSN 1750-1172-20:1 (2025) p. 1-33
Precision medicine in epilepsy : clinicians' perspectives from an international qualitative study
Bron
Epilepsia - ISSN 0013-9580- (2025) p.