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Collagen type IV-related nephropathies in Portugal: pathogenic COL4A5 mutations and clinical characterization of 22 families.
Nabais Sá MJ, Sampaio S, Oliveira A, Alves S, Moura CP, Silva SE, Castro R, Araújo JA, Rodrigues M, Neves F, Seabra J, Soares C, Gaspar MA, Tavares I, Freitas L, Sousa TC, Henriques AC, Costa FT, Morgado E, Sousa FT, Sousa JP, da Costa AG, Filipe R, Garrido J, Montalban J, Ponce P, Alves R, Faria B, Carvalho MF, Pestana M, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: silva se. Clin Genet. 2015 Nov;88(5):462-7. doi: 10.1111/cge.12522. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307721
Hypotrichosis with juvenile macular dystrophy.
Oliveira-Ferreira C, Leuzinger-Dias M, Tavares-Ferreira J, Silva SE, Brandão E, Falcão-Reis F, Rocha-Sousa A. Oliveira-Ferreira C, et al. Ophthalmic Genet. 2019 Dec;40(6):574-577. doi: 10.1080/13816810.2019.1688840. Epub 2019 Nov 13. Ophthalmic Genet. 2019. PMID: 31718366 No abstract available.
Collagen type IV-related nephropathies in Portugal: pathogenic COL4A3 and COL4A4 mutations and clinical characterization of 25 families.
Nabais Sá MJ, Storey H, Flinter F, Nagel M, Sampaio S, Castro R, Araújo JA, Gaspar MA, Soares C, Oliveira A, Henriques AC, da Costa AG, Abreu CP, Ponce P, Alves R, Pinho L, Silva SE, de Moura CP, Mendonça L, Carvalho F, Pestana M, Alves S, Carvalho F, Oliveira JP. Nabais Sá MJ, et al. Among authors: silva se. Clin Genet. 2015 Nov;88(5):456-61. doi: 10.1111/cge.12521. Epub 2014 Nov 10. Clin Genet. 2015. PMID: 25307543
5,959 results