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GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Zanetti A, Dujardin G, Fares-Taie L, Amiel J, Roger JE, Audo I, Robert MP, David P, Jung V, Goudin N, Guerrera IC, Moriceau S, Amana D, Assia Batzir N, Bachar-Zipori A, Basel Salmon L, Boddaert N, Briault S, Bruel AL, Costet-Fighiera C, Coutinho Santos L, Gitiaux C, Kaminska K, Kuentz P, Orenstein N, Philip-Sarles N, Plutino M, Quinodoz M, Santos C, Sigaudy S, Soeiro E Sá M, Sofrin E, Sousa AB, Sousa-Luis R, Thauvin-Robinet C, van Dijk EL, Zaafrane-Khachnaoui K, Zur D, Kaplan J, Rivolta C, Rozet JM, Perrault I. Zanetti A, et al. Among authors: robert mp. Nat Commun. 2024 Nov 21;15(1):10096. doi: 10.1038/s41467-024-54549-8. Nat Commun. 2024. PMID: 39572588 Free PMC article.
Allogeneic bone marrow transplantation in craniometaphyseal dysplasia.
Morelle G, Breton S, Robert MP, Michot C, Boussard C, Cormier-Daire V, Moshous D. Morelle G, et al. Among authors: robert mp. Lancet. 2024 May 11;403(10439):1893-1894. doi: 10.1016/S0140-6736(24)00803-1. Lancet. 2024. PMID: 38734477 No abstract available.
[Pediatric myasthenia with ocular involvement].
Prud'homme L, Gitiaux C, Barnerias C, Orssaud C, Bremond-Gignac D, Robert MP. Prud'homme L, et al. Among authors: robert mp. J Fr Ophtalmol. 2024 Sep;47(7):104202. doi: 10.1016/j.jfo.2024.104202. Epub 2024 May 8. J Fr Ophtalmol. 2024. PMID: 38723375 French.
Myopia: Insights from a population-based survey.
Robert MP, Daruich A, Bremond-Gignac D. Robert MP, et al. Acta Ophthalmol. 2024 Aug;102(5):e869-e870. doi: 10.1111/aos.16687. Epub 2024 Apr 5. Acta Ophthalmol. 2024. PMID: 38578068 No abstract available.
107 results