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Phenotypic Expression and Outcomes in Patients with the p.Arg301Gln GLA Variant in Anderson-Fabry Disease.
Blanco R, Rico-Ramírez Y, Hermida-Ameijeiras Á, Abdullah IMS, Lau K, Alvarez-Rubio J, Fortuny E, Martínez-Monzonís A, Nowak A, Nordbeck P, Veras-Burgos C, Pons-Llinares J, Rossi E, Caimi-Martínez F, Bosch-Rovira T, Alamar-Cervera M, Ruiz-Pizarro V, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Blanco R, et al. Among authors: torres juan l. Int J Mol Sci. 2024 Apr 12;25(8):4299. doi: 10.3390/ijms25084299. Int J Mol Sci. 2024. PMID: 38673884 Free PMC article.
New Variant in Placophilin-2 Gene Causing Arrhythmogenic Myocardiopathy.
Caimi-Martinez F, Antoniutti G, Blanco R, García de la Villa B, Alvarenga N, Govea-Callizo N, Torres-Juan L, Heine-Suñer D, Rosell-Andreo J, Luengos DC, Alvarez-Rubio J, Ripoll-Vera T. Caimi-Martinez F, et al. Among authors: torres juan l. Genes (Basel). 2022 Apr 27;13(5):782. doi: 10.3390/genes13050782. Genes (Basel). 2022. PMID: 35627167 Free PMC article.
Case Report: A Novel NKX2-5 Mutation in a Family With Congenital Heart Defects, Left Ventricular Non-compaction, Conduction Disease, and Sudden Cardiac Death.
Morlanes-Gracia P, Antoniutti G, Alvarez-Rubio J, Torres-Juan L, Heine-Suñer D, Ripoll-Vera T. Morlanes-Gracia P, et al. Among authors: torres juan l. Front Cardiovasc Med. 2021 Jul 1;8:691203. doi: 10.3389/fcvm.2021.691203. eCollection 2021. Front Cardiovasc Med. 2021. PMID: 34277740 Free PMC article.
Gene symbol: SRY.
Heine-Suñer D, Torres-Juan L, Gómez C, Pérez-Granero A, Bernues M, Govea N, Roseli J. Heine-Suñer D, et al. Hum Genet. 2007 Feb;120(6):909. Hum Genet. 2007. PMID: 17438599 No abstract available.
Unrelated chromosomal anomalies found in patients with suspected 22q11.2 deletion.
Fernández L, Lapunzina P, Pajares IL, Palomares M, Martínez I, Fernández B, Quero J, García-Guereta L, García-Alix A, Burgueros M, Galán-Gómez E, Carbonell-Pérez JM, Pérez-Granero A, Torres-Juan L, Heine-Suñer D, Rosell J, Delicado A. Fernández L, et al. Among authors: torres juan l. Am J Med Genet A. 2008 May 1;146A(9):1134-41. doi: 10.1002/ajmg.a.32256. Am J Med Genet A. 2008. PMID: 18384142
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