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Biallelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: leal sm. medRxiv [Preprint]. 2024 Oct 11:2024.10.10.24315152. doi: 10.1101/2024.10.10.24315152. medRxiv. 2024. PMID: 39417135 Free PMC article. Preprint.
Long-term health outcomes of young patients with low-complexity coronary disease: a weighted analysis according to revascularization strategy.
Custódio P, Garcez L, Madeira S, Magro P, Vale N, Madeira M, Leal S, Nolasco T, Brito J, Boshoff S, De Araújo Gonçalves P, Marques M, Mesquita Gabriel H, Calquinha J, Campante Teles R, Abecasis M, Almeida M, Sousa Uva M, Mendes M, Pedro Neves J, Raposo L. Custódio P, et al. Among authors: leal s. Eur J Cardiothorac Surg. 2024 Nov 4;66(5):ezae367. doi: 10.1093/ejcts/ezae367. Eur J Cardiothorac Surg. 2024. PMID: 39374540
865 results