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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: rega a. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
Risk Factors Associated with Traumatic Brain Injury and Implementation of Guidelines for Requesting Computed Tomography After Head Trauma Among Children in France.
Roche S, Crombé A, Benhamed A, Hak JF, Dabadie A, Fauconnier-Fatus C, Rega A, Pech-Gourg G, Tazarourte K, Seux M, Acquier A, Gorincour G. Roche S, et al. Among authors: rega a. JAMA Netw Open. 2023 May 1;6(5):e2311092. doi: 10.1001/jamanetworkopen.2023.11092. JAMA Netw Open. 2023. PMID: 37129895 Free PMC article.
Examining Predictors of Different ABA Treatments: A Systematic Review.
Cerasuolo M, Simeoli R, Nappo R, Gallucci M, Iovino L, Frolli A, Rega A. Cerasuolo M, et al. Among authors: rega a. Behav Sci (Basel). 2022 Aug 4;12(8):267. doi: 10.3390/bs12080267. Behav Sci (Basel). 2022. PMID: 36004838 Free PMC article. Review.
95 results