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12q21.2q22 deletion: a new patient.
Oliveira R, Pereira C, Melo JB, Mesquita S, Venâncio M, Carreira IM, Saraiva J. Oliveira R, et al. Am J Med Genet A. 2015 Aug;167A(8):1877-83. doi: 10.1002/ajmg.a.37077. Epub 2015 Apr 6. Am J Med Genet A. 2015. PMID: 25845712
Identification of novel genetic causes of Rett syndrome-like phenotypes.
Lopes F, Barbosa M, Ameur A, Soares G, de Sá J, Dias AI, Oliveira G, Cabral P, Temudo T, Calado E, Cruz IF, Vieira JP, Oliveira R, Esteves S, Sauer S, Jonasson I, Syvänen AC, Gyllensten U, Pinto D, Maciel P. Lopes F, et al. Among authors: oliveira g, oliveira r. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6. J Med Genet. 2016. PMID: 26740508 Free article.
Oculo-auriculo-vertebral spectrum: clinical and molecular analysis of 51 patients.
Beleza-Meireles A, Hart R, Clayton-Smith J, Oliveira R, Reis CF, Venâncio M, Ramos F, Sá J, Ramos L, Cunha E, Pires LM, Carreira IM, Scholey R, Wright R, Urquhart JE, Briggs TA, Kerr B, Kingston H, Metcalfe K, Donnai D, Newman WG, Saraiva JM, Tassabehji M. Beleza-Meireles A, et al. Among authors: oliveira r. Eur J Med Genet. 2015 Sep;58(9):455-65. doi: 10.1016/j.ejmg.2015.07.003. Epub 2015 Jul 20. Eur J Med Genet. 2015. PMID: 26206081
Cone dystrophy with supernormal rod responses: A rare KCNV2 gene variant.
Esteves-Leandro J, Torres-Costa S, Estrela-Silva S, Santos-Silva R, Brandão E, Grangeia A, Fernandes S, Oliveira R, Falcão-Reis F, Rocha-Sousa A. Esteves-Leandro J, et al. Among authors: oliveira r. Eur J Ophthalmol. 2022 Jan;32(1):664-672. doi: 10.1177/11206721211000000. Epub 2021 Mar 11. Eur J Ophthalmol. 2022. PMID: 33706576
CYP21A2 Gene Pathogenic Variants: A Multicenter Study on Genotype-Phenotype Correlation from a Portuguese Pediatric Cohort.
Santos-Silva R, Cardoso R, Lopes L, Fonseca M, Espada F, Sampaio L, Brandão C, Antunes A, Bragança G, Coelho R, Bernardo T, Vieira P, Morais R, Leite AL, Ribeiro L, Carvalho B, Grangeia A, Oliveira R, Oliveira MJ, Rey V, Rosmaninho-Salgado J, Marques B, Garcia AM, Meireles A, Carvalho J, Sequeira A, Mirante A, Borges T; on behalf of the Portuguese Society of Pediatric Endocrinology and Diabetology. Santos-Silva R, et al. Among authors: oliveira mj, oliveira r. Horm Res Paediatr. 2019;91(1):33-45. doi: 10.1159/000497485. Epub 2019 Mar 19. Horm Res Paediatr. 2019. PMID: 30889569 Clinical Trial.
Recommendations for genetic testing in cardiology: Review of major international guidelines.
Sousa A, Moldovan O, Lebreiro A, Bourbon M, António N, Rato Q, Rodrigues P, Toste A, Gonçalves Rocha M, Oliveira R, Granja S, Cruz C, Almeida J, Martins E. Sousa A, et al. Among authors: oliveira r. Rev Port Cardiol (Engl Ed). 2020 Oct;39(10):597-610. doi: 10.1016/j.repc.2020.03.016. Epub 2020 Oct 6. Rev Port Cardiol (Engl Ed). 2020. PMID: 33036867 Free article. Review. English, Portuguese.
5,922 results