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Unraveling the genetic spectrum of inherited deaf-blindness in Portugal.
Machado T, Cortinhal T, Carvalho AL, Teixeira-Marques F, Silva R, Murta J, Marques JP. Machado T, et al. Among authors: murta j. Orphanet J Rare Dis. 2025 Jan 14;20(1):22. doi: 10.1186/s13023-025-03542-5. Orphanet J Rare Dis. 2025. PMID: 39806488 Free PMC article.
Expanding the mutational and phenotypical spectrum of FHONDA syndrome.
Teixeira BM, Figueiredo I, Raimundo M, Quental H, Carvalho AL, Silva R, Murta J, Marques JP. Teixeira BM, et al. Among authors: murta j. Eur J Ophthalmol. 2025 Jan;35(1):NP10-NP15. doi: 10.1177/11206721241284072. Epub 2024 Sep 13. Eur J Ophthalmol. 2025. PMID: 39275842
Prognostic impact of hyperreflective foci in nonsyndromic retinitis pigmentosa.
Félix R, Gouveia N, Bernardes J, Silva R, Murta J, Marques JP. Félix R, et al. Among authors: murta j. Graefes Arch Clin Exp Ophthalmol. 2024 Sep;262(9):2851-2858. doi: 10.1007/s00417-024-06474-1. Epub 2024 Apr 5. Graefes Arch Clin Exp Ophthalmol. 2024. PMID: 38578334 Free PMC article.
108 results