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Aortic Root Dilation and Genotype Associations in Phelan-McDermid Syndrome.
Gluckman J, Levy T, Friedman K, Garces F, Filip-Dhima R, Quinlan A, Iannotti I, Pekar M, Hernandez AL, Nava MT, Kravets E, Siegel A, Bernstein JA, Berry-Kravis E, Powell CM, Soorya LV, Thurm A, Srivastava S, Buxbaum JD, Sahin M, Kolevzon A, Gelb BD; Developmental Synaptopathies Consortium. Gluckman J, et al. Among authors: hernandez al. Am J Med Genet A. 2025 Jan;197(1):e63872. doi: 10.1002/ajmg.a.63872. Epub 2024 Sep 11. Am J Med Genet A. 2025. PMID: 39257296
Intracranial hemorrhage in a patient with Urbach-Wiethe disease.
Hernández ALCC, Torres GSA, Silva TTD, Tinone G, Ferreira LF, Telles JPM, Freua F, Lucato LT. Hernández ALCC, et al. Arq Neuropsiquiatr. 2024 Nov;82(11):1-2. doi: 10.1055/s-0044-1789227. Epub 2024 Sep 2. Arq Neuropsiquiatr. 2024. PMID: 39222926 Free PMC article. No abstract available.
115 results