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Status epilepticus in BRAF-related cardio-facio-cutaneous syndrome: Focus on neuroimaging clues to physiopathology.
Epilepsia Open. 2024 Feb;9(1):258-267. doi: 10.1002/epi4.12864. Epub 2023 Dec 20.
Epilepsia Open. 2024.
PMID: 37943120
Free PMC article.
LZTFL1, a rare cause of Bardet-Biedl syndrome: A new patient with severe short stature and moderate intellectual disability, more than casual associations?
Gana S, Di Biagio M, Carraro L, Rossetto G, Scarpelli L, Scognamillo I, Valente EM, Signorini S.
Gana S, et al.
Am J Med Genet A. 2024 May 27:e63723. doi: 10.1002/ajmg.a.63723. Online ahead of print.
Am J Med Genet A. 2024.
PMID: 38801250
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