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A needle in a haystack? The impact of a targeted epilepsy gene panel in the identification of a treatable but rapidly progressive metabolic epilepsy: CLN2 disease.
Arq Neuropsiquiatr. 2024 May;82(5):1-8. doi: 10.1055/s-0044-1786854. Epub 2024 May 19.
Arq Neuropsiquiatr. 2024.
PMID: 38763144
Free PMC article.
Remote Monitoring for Seizures During Therapeutic Hypothermia in Neonates With Hypoxic-Ischemic Encephalopathy.
Variane GFT, Dahlen A, Pietrobom RFR, Rodrigues DP, Magalhães M, Mimica MJ, Llaguno NS, Leandro DMK, Girotto PN, Sampaio LB, Van Meurs KP.
Variane GFT, et al. Among authors: girotto pn.
JAMA Netw Open. 2023 Nov 1;6(11):e2343429. doi: 10.1001/jamanetworkopen.2023.43429.
JAMA Netw Open. 2023.
PMID: 37966836
Free PMC article.
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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.
Schirwani S, Albaba S, Carere DA, Guillen Sacoto MJ, Milan Zamora F, Si Y, Rabin R, Pappas J, Renaud DL, Hauser N, Reid E, Blanchet P, Foulds N, Dixit A, Fisher R, Armstrong R, Isidor B, Cogne B, Schrier Vergano S, Demirdas S, Dykzeul N, Cohen JS, Grand K, Morel D, Slavotinek A, Albassam HF, Naik S, Dean J, Ragge N, Costa C, Tedesco MG, Harrison RE, Bouman A, Palen E, Challman TD, Willemsen MH, Vogt J, Cunniff C, Bergstrom K, Walia JS, Bruel AL, Kini U, Alkuraya FS, Slegesky V, Meeks N, Girotto P, Johnson D; DDD Study; Newbury-Ecob R, Ockeloen CW, Prontera P, Lynch SA, Li D, Graham JM Jr, Pierson TM, Balasubramanian M.
Schirwani S, et al. Among authors: girotto p.
Am J Med Genet A. 2021 Nov;185(11):3446-3458. doi: 10.1002/ajmg.a.62465. Epub 2021 Aug 26.
Am J Med Genet A. 2021.
PMID: 34436830
Free article.
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