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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: lara j. Int J Mol Sci. 2022 Aug 22;23(16):9480. doi: 10.3390/ijms23169480. Int J Mol Sci. 2022. PMID: 36012761 Free PMC article.
Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
[Update on the role of diet in recurrent nephrolithiasis].
Riobó Serván P, Sánchez Vilar O, Azriel S, Lara JI, Herrera Pombo JL. Riobó Serván P, et al. Among authors: lara ji. Nutr Hosp. 1998 Jul-Aug;13(4):167-71. Nutr Hosp. 1998. PMID: 9780747 Review. Spanish.
[Nutrition and mental function in the elderly].
Riobó P, Gonzalo MA, Moreno I, Lara JI, Moreno A, Molina MJ, Herrera-Pombo JL. Riobó P, et al. Among authors: lara ji. Rev Clin Esp. 1993 Oct;193(5):252-4. Rev Clin Esp. 1993. PMID: 8256013 Review. Spanish.
592 results