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Cornelia de Lange syndrome: Congenital heart disease in 149 patients.
Ayerza Casas A, Puisac Uriol B, Teresa Rodrigo ME, Hernández Marcos M, Ramos Fuentes FJ, Pie Juste J. Ayerza Casas A, et al. Among authors: ramos fuentes fj. Med Clin (Barc). 2017 Oct 11;149(7):300-302. doi: 10.1016/j.medcli.2017.03.051. Epub 2017 Jun 16. Med Clin (Barc). 2017. PMID: 28629661 English, Spanish.
Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.
Aurensanz Clemente E, Ayerza Casas A, García Lasheras C, Ramos Fuentes F, Bueno Martínez I, Pelegrín Díaz J, Ruiz Frontera P, Montserrat Iglesias L. Aurensanz Clemente E, et al. Clin Case Rep. 2017 Jan 27;5(3):232-237. doi: 10.1002/ccr3.832. eCollection 2017 Mar. Clin Case Rep. 2017. PMID: 28265379 Free PMC article.
Genetic Diagnosis of Rare Diseases: Past and Present.
Ramos-Fuentes F, González-Meneses A, Ars E, Hernández-Jaras J. Ramos-Fuentes F, et al. Adv Ther. 2020 May;37(Suppl 2):29-37. doi: 10.1007/s12325-019-01176-1. Epub 2020 Mar 31. Adv Ther. 2020. PMID: 32236876 Review.
[Familial EXOSC3-related pontocerebellar hypoplasia].
Di Giovambattista AP, Jácome Querejeta I, Ventura Faci P, Rodríguez Martínez G, Ramos Fuentes F. Di Giovambattista AP, et al. An Pediatr (Barc). 2017 May;86(5):284-286. doi: 10.1016/j.anpedi.2016.09.011. Epub 2016 Nov 19. An Pediatr (Barc). 2017. PMID: 27876572 Free article. Spanish. No abstract available.
[Molecular pathology of osteochondrodysplasias].
Bueno Sánchez M, Ramos Fuentes FJ. Bueno Sánchez M, et al. Among authors: ramos fuentes fj. An Esp Pediatr. 1998 Apr;48(4):343-7. An Esp Pediatr. 1998. PMID: 9629788 Spanish. No abstract available.
Genetic landscape of 6089 inherited retinal dystrophies affected cases in Spain and their therapeutic and extended epidemiological implications.
Perea-Romero I, Gordo G, Iancu IF, Del Pozo-Valero M, Almoguera B, Blanco-Kelly F, Carreño E, Jimenez-Rolando B, Lopez-Rodriguez R, Lorda-Sanchez I, Martin-Merida I, Pérez de Ayala L, Riveiro-Alvarez R, Rodriguez-Pinilla E, Tahsin-Swafiri S, Trujillo-Tiebas MJ; ESRETNET Study Group; ERDC Study Group; Associated Clinical Study Group; Garcia-Sandoval B, Minguez P, Avila-Fernandez A, Corton M, Ayuso C. Perea-Romero I, et al. Sci Rep. 2021 Jan 15;11(1):1526. doi: 10.1038/s41598-021-81093-y. Sci Rep. 2021. PMID: 33452396 Free PMC article.
17 results