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Year | Number of Results |
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2023 | 1 |
2024 | 3 |
2025 | 0 |
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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.
"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.
Gana S, Rossetto G, Garau J, Vacchini V, Ferraro F, Rognone E, Pichiecchio A, Gasperini S, Valente EM, Orcesi S.
Gana S, et al.
Mov Disord Clin Pract. 2024 Nov;11(11):1454-1457. doi: 10.1002/mdc3.14190. Epub 2024 Aug 14.
Mov Disord Clin Pract. 2024.
PMID: 39140302
Free PMC article.
No abstract available.
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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 Oct;194(10):e63723. doi: 10.1002/ajmg.a.63723. Epub 2024 May 27.
Am J Med Genet A. 2024.
PMID: 38801250
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