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FOXG1 variants can be associated with milder phenotypes than congenital Rett syndrome with unassisted walking and language development.
Mazel B, Delanne J, Garde A, Racine C, Bruel AL, Duffourd Y, Lopergolo D, Santorelli FM, Marchi V, Pinto AM, Mencarelli MA, Canitano R, Valentino F, Papa FT, Fallerini C, Mari F, Renieri A, Munnich A, Niclass T, Le Guyader G, Thauvin-Robinet C, Philippe C, Faivre L. Mazel B, et al. Among authors: marchi v. Am J Med Genet B Neuropsychiatr Genet. 2024 Sep;195(6):e32970. doi: 10.1002/ajmg.b.32970. Epub 2024 Mar 8. Am J Med Genet B Neuropsychiatr Genet. 2024. PMID: 38459409
Corrigendum: Building an open source classifier for the neonatal EEG background: a systematic feature-based approach from expert scoring to clinical visualization.
Montazeri S, Pinchefsky E, Tse I, Marchi V, Kohonen J, Kauppila M, Airaksinen M, Tapani K, Nevalainen P, Hahn C, Tam EWY, Stevenson NJ, Vanhatalo S. Montazeri S, et al. Among authors: marchi v. Front Hum Neurosci. 2024 Apr 29;18:1417744. doi: 10.3389/fnhum.2024.1417744. eCollection 2024. Front Hum Neurosci. 2024. PMID: 38741595 Free PMC article.
81 results