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Neurosurgical aspects of Noonan syndrome.
Saragosti E, Fattal-Valevski A, Levin D, Hausman-Kedem M, Constantini S, Mecica N, Zarour S, Roth J. Saragosti E, et al. Among authors: fattal valevski a. Childs Nerv Syst. 2023 Apr;39(4):849-856. doi: 10.1007/s00381-023-05888-2. Epub 2023 Feb 27. Childs Nerv Syst. 2023. PMID: 36847963 Review.
Epilepsy in tuberous sclerosis complex: Findings from the TOSCA Study.
Nabbout R, Belousova E, Benedik MP, Carter T, Cottin V, Curatolo P, Dahlin M, D Amato L, d'Augères GB, de Vries PJ, Ferreira JC, Feucht M, Fladrowski C, Hertzberg C, Jozwiak S, Lawson JA, Macaya A, Marques R, O'Callaghan F, Qin J, Sander V, Sauter M, Shah S, Takahashi Y, Touraine R, Youroukos S, Zonnenberg B, Jansen A, Kingswood JC; TOSCA Consortium and TOSCA Investigators. Nabbout R, et al. Epilepsia Open. 2018 Dec 21;4(1):73-84. doi: 10.1002/epi4.12286. eCollection 2019 Mar. Epilepsia Open. 2018. PMID: 30868117 Free PMC article.
Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number.
Thompson K, Majd H, Dallabona C, Reinson K, King MS, Alston CL, He L, Lodi T, Jones SA, Fattal-Valevski A, Fraenkel ND, Saada A, Haham A, Isohanni P, Vara R, Barbosa IA, Simpson MA, Deshpande C, Puusepp S, Bonnen PE, Rodenburg RJ, Suomalainen A, Õunap K, Elpeleg O, Ferrero I, McFarland R, Kunji ERS, Taylor RW. Thompson K, et al. Am J Hum Genet. 2016 Dec 1;99(6):1405. doi: 10.1016/j.ajhg.2016.11.001. Am J Hum Genet. 2016. PMID: 27912046 Free PMC article. No abstract available.
138 results