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Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
Pascual P, Tenorio-Castano J, Mignot C, Afenjar A, Arias P, Gallego-Zazo N, Parra A, Miranda L, Cazalla M, Silván C, Heron D, Keren B, Popa I, Palomares M, Rikeros E, Ramos FJ, Almoguera B, Ayuso C, Swafiri ST, Barbero AIS, Srinivasan VM, Gowda VK, Morleo M, Nigro V, D'Arrigo S, Ciaccio C, Martin Mesa C, Paumard B, Guillen G, Anton ATS, Jimenez MD, Seidel V, Suárez J, Cormier-Daire V, Consortium TS, Nevado J, Lapunzina P. Pascual P, et al. Among authors: rikeros e. Genes (Basel). 2023 Aug 23;14(9):1664. doi: 10.3390/genes14091664. Genes (Basel). 2023. PMID: 37761804 Free PMC article. Review.
Mortality in Patients with 22q11.2 Rearrangements.
Cilio Arroyuelo M, Tenorio-Castano J, García-Moya LF, Parra A, Cazalla M, Gallego N, Miranda L, Mori MÁ, García-Gueretta L, Labrandero C, Mansilla E, Rikeros E, García-Santiago F, Vallcorba I, Arias P, Silván C, Deiros Bronte L, Nevado J, Lapunzina P. Cilio Arroyuelo M, et al. Among authors: rikeros e. Genes (Basel). 2024 Aug 30;15(9):1146. doi: 10.3390/genes15091146. Genes (Basel). 2024. PMID: 39336737 Free PMC article.