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Cortinhal, Telmo; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Duarte, Lilianne; Miranda, Vitor; Costa, José; Sousa, Ana Berta; Peter, Virginie G; Kaminska, Karolina; Rivolta, Carlo; Carvalho, Ana Luísa; Saraiva, Jorge; Soares, Célia Azevedo; Silva, Rufino; Murta, Joaquim; Santos, Luísa Coutinho; Marques, João Pedro (2024). Genetic profile of syndromic retinitis pigmentosa in Portugal. Graefe's archive for clinical and experimental ophthalmology, 262(6), pp. 1883-1897. Springer 10.1007/s00417-023-06360-2
Moosa, Shahida; Yamamoto, Guilherme L; Garbes, Lutz; Keupp, Katharina; Beleza-Meireles, Ana; Moreno, Carolina Araujo; Valadares, Eugenia Ribeiro; de Sousa, Sérgio B; Maia, Sofia; Saraiva, Jorge; Honjo, Rachel S; Kim, Chong Ae; Cabral de Menezes, Hamilton; Lausch, Ekkehart; Lorini, Pablo Villavicencio; Lamounier, Arsonval; Carniero, Tulio Canella Bezerra; Giunta, Cecilia; Rohrbach, Marianne; Janner, Marco; ... (2019). Autosomal-Recessive Mutations in MESD Cause Osteogenesis Imperfecta. American journal of human genetics, 105(4), pp. 836-843. Cell Press 10.1016/j.ajhg.2019.08.008
