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Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseases.
Cavestro C, Morra F, Legati A, D'Amato M, Nasca A, Iuso A, Lubarr N, Morrison JL, Wheeler PG, Serra-Juhé C, Rodríguez-Santiago B, Turón-Viñas E, Prouteau C, Barth M, Hayflick SJ, Ghezzi D, Tiranti V, Di Meo I. Cavestro C, et al. Among authors: serra juhe c. Ann Clin Transl Neurol. 2024 Jun;11(6):1615-1629. doi: 10.1002/acn3.52079. Epub 2024 May 15. Ann Clin Transl Neurol. 2024. PMID: 38750253 Free PMC article.
An European overview of genetic counselling supervision provision.
Paneque M, Guimarães L, Bengoa J, Pasalodos S, Cordier C, Esteban I, Lemos C, Moldovan R, Serra-Juhé C. Paneque M, et al. Among authors: serra juhe c. Eur J Med Genet. 2023 Apr;66(4):104710. doi: 10.1016/j.ejmg.2023.104710. Epub 2023 Jan 30. Eur J Med Genet. 2023. PMID: 36731744 Free article.
CIBERER: Spanish national network for research on rare diseases: A highly productive collaborative initiative.
Luque J, Mendes I, Gómez B, Morte B, López de Heredia M, Herreras E, Corrochano V, Bueren J, Gallano P, Artuch R, Fillat C, Pérez-Jurado LA, Montoliu L, Carracedo Á, Millán JM, Webb SM, Palau F; CIBERER Network; Lapunzina P. Luque J, et al. Clin Genet. 2022 May;101(5-6):481-493. doi: 10.1111/cge.14113. Epub 2022 Feb 4. Clin Genet. 2022. PMID: 35060122 Free PMC article. Review.
Current Status of Genetic Counselling for Rare Diseases in Spain.
Álvaro-Sánchez S, Abreu-Rodríguez I, Abulí A, Serra-Juhe C, Garrido-Navas MDC. Álvaro-Sánchez S, et al. Among authors: serra juhe c. Diagnostics (Basel). 2021 Dec 9;11(12):2320. doi: 10.3390/diagnostics11122320. Diagnostics (Basel). 2021. PMID: 34943558 Free PMC article. Review.
Beyond the disease itself: A cross-cutting educational initiative for patients and families with rare diseases.
Rovira-Moreno E, Abuli A, Codina-Sola M, Valenzuela I, Serra-Juhe C, Cuscó I, Borregán M, Cueto-González A, Vendrell T, López-Grondona F, Brun-Gasca C, Brignani E, Martínez-Ribot L, Garci-Espejo R, Cruz J, García-Arumí E, Tizzano EF. Rovira-Moreno E, et al. Among authors: serra juhe c. J Genet Couns. 2021 Jun;30(3):693-700. doi: 10.1002/jgc4.1354. Epub 2020 Nov 3. J Genet Couns. 2021. PMID: 33142000
32 results