Associated Papers
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
34440332 (PubMed )
Supplement: genes-12-01157-s001.zip › genes-1245896-Table_S1.xlsx › Sheet1
Disease-associated mosaic variation in clinical exome sequencing: a two-year pediatric tertiary care experience.
Miller CR et al.
Cold Spring Harbor Molecular Case Studies, 2020
Psychiatric features and variable neurodevelopment outcome in four females with IQSEC2 spectrum disorder.
Accogli A et al.
Journal of Genetics, 2020
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