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Mosaicism and intronic variants in RB1 gene revealed by next generation sequencing in a cohort of Spanish retinoblastoma patients.
Gomez-Mariano G, Hernandez-SanMiguel E, Fernandez-Prieto M, Ramos Del Saz S, Baladrón B, Mielu LM, Rivera D, Moneo V, Lopez L, Rodriguez-Martin C, Fernandez-Teijeiro Álvarez A, Sabado C, Bermejo E, Alonso FJ, Martinez-Delgado B. Gomez-Mariano G, et al. Among authors: mielu lm. Exp Eye Res. 2025 Jan 6:110233. doi: 10.1016/j.exer.2025.110233. Online ahead of print. Exp Eye Res. 2025. PMID: 39778672
Differences in Expression of IQSEC2 Transcript Isoforms in Male and Female Cases with Loss of Function Variants and Neurodevelopmental Disorder.
Baladron B, Mielu LM, López-Martín E, Barrero MJ, Lopez L, Alvarado JI, Monzón S, Varona S, Cuesta I, Cazorla R, Lara J, Iglesias G, Román E, Ros P, Gomez-Mariano G, Cubillo I, Miguel EH, Rivera D, Alonso J, Bermejo-Sánchez E, Posada M, Martínez-Delgado B. Baladron B, et al. Among authors: mielu lm. Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480. Int J Mol Sci. 2022. PMID: 36012761 Free PMC article.