المؤلفون: Baixia, Márcia, Sousa, Sónia, Pina, Maria J., Silva, Raquel M, Cirnes, Luís, Canedo, Paulo, Castedo, Sérgio, Machado, José C

المساهمون: Repositório Científico do Instituto Politécnico do Porto

مصطلحات موضوعية: Cardiomyopathy genetic

وصف الملف: application/pdf

Relation: Baixia, M., Sousa, S., Pina, M. J., Silva, R. M., Cirnes, L., Canedo, P., Castedo, S., & Machado, J. C. (2019). The bigger the better? Evaluation of the value of large multi-gene panels in Portuguese cardiomyopathy genetic testing. Medicine, 99(9+), 10–11.

الاتاحة: http://hdl.handle.net/10400.22/16252

المؤلفون: Moura, Daniela, Pina, Maria João, Pereira, Cátia, Baixia, Márcia, Leal, Rafaela, Sousa, Sónia, Vieira, Filipa Quintela, Silva, Regina, Cirnes, Luís

المساهمون: Repositório Científico do Instituto Politécnico do Porto

وصف الملف: application/pdf; text/plain; charset=utf-8

Relation: Moura, D., Pina, M. J., Pereira, C., Baixia, M., Leal, R., Sousa, S., Vieira, F. Q., Silva, R. A., & Cirnes, L. (2015). Effects of different storage conditions of sequencing products with formamide in the quality of sequences. In R. A. Silva, P. Baylina, F. Q. Vieira, C. Barrias, M. Rubim, T. Coelho, C. Prudêncio, & Â. Jesus (Eds.), II Congresso Internacional da Saúde Gaia Porto: Livro de Resumos (1st ed., Vol. 1, pp. 123). Escola Superior de Tecnologia da Saúde do Instituto Politécnico do Porto.; 978-989-20-6340-9

الاتاحة: http://hdl.handle.net/10400.22/20176

المؤلفون: Moura, Daniela, Pina, Maria João, Pereira, Cátia, Baixia, Márcia, Leal, Rafaela, Sousa, Sónia, Vieira, Filipa Quintela, Silva, Regina, Cirnes, Luís

المساهمون: Repositório Científico do Instituto Politécnico do Porto

وصف الملف: application/pdf; text/plain; charset=utf-8

Relation: Moura, D., Pina, M. J., Pereira, C., Baixia, M., Leal, R., Sousa, S., Vieira, F. Q., Silva, R. A., & Cirnes, L. (2015). Impact of different storage conditions of formamide in the quality of sequences. In R. A. Silva, P. Baylina, F. Q. Vieira, C. Barrias, M. Rubim, T. Coelho, C. Prudêncio, & Â. Jesus (Eds.), II Congresso Internacional da Saúde Gaia Porto: Livro de Resumos (1st ed., Vol. 1, pp. 122). Escola Superior de Tecnologia da Saúde do Instituto Politécnico do Porto.; 978-989-20-6340-9

الاتاحة: http://hdl.handle.net/10400.22/20175

المؤلفون: Sousa, Alexandra, Canedo, Paulo, Azevedo, Olga, Lopes, Luís, Pinho, Teresa, Baixia, Márcia, Rocha-Gonçalves, Francisco, Gonçalves, Lino, Cardoso, José Silva, Machado, José Carlos, Martins, Elisabete

مصطلحات موضوعية: Dilated cardiomyopathy, Genetic variant, Next-generation sequencing, Miocardiopatia dilatada, Variante genética, Sequenciação massiva paralela, Adult, Cardiomyopathy, Dilated, Carrier Proteins, DNA, DNA Mutational Analysis, Echocardiography, Electrocardiography, Female, Genetic Markers, Genetic Variation, Heart Ventricles, Humans, Lamin Type A, Male, Phenotype, Portugal, Retrospective Studies, Troponin T, Mutation

Relation: PTDC/BIM-MEC/0650/2012; http://hdl.handle.net/10316/101607

الاتاحة: http://hdl.handle.net/10316/101607
https://doi.org/10.1016/j.repc.2018.10.010

المؤلفون: Sousa, Alexandra, Canedo, Paulo, Azevedo, Olga, Lopes, Luís, Pinho, Teresa, Baixia, Márcia, Rocha-Gonçalves, Francisco, Gonçalves, Lino, Cardoso, José Silva, Machado, José Carlos, Martins, Elisabete

المساهمون: Portuguese Government's Foundation for Science and Technology

المصدر: Revista Portuguesa de Cardiologia (English Edition) ; volume 38, issue 2, page 129-139 ; ISSN 2174-2049

الاتاحة: http://dx.doi.org/10.1016/j.repce.2018.10.010
https://api.elsevier.com/content/article/PII:S2174204919300595?httpAccept=text/xml
https://api.elsevier.com/content/article/PII:S2174204919300595?httpAccept=text/plain

المؤلفون: Duarte, Fabiana¹ (AUTHOR) fabiana.s.duarte@azores.gov.pt, Oliveira, Luís¹ (AUTHOR), Baixia, Márcia² (AUTHOR), Mota‐Vieira, Luísa^3,4 (AUTHOR), Machado, Carina¹ (AUTHOR)

المصدر: Clinical Genetics. Nov2024, p1. 7p. 2 Illustrations.

مصطلحات موضوعية: *GENETIC profile, *HYPERTROPHIC cardiomyopathy, *GENETIC testing, *HETEROZYGOSITY, *GENETIC mutation

مصطلحات جغرافية: AZORES

المؤلفون: Sousa, Alexandra, Canedo, Paulo, Campelo, Manuel, Moura, Brenda, Leite, Sérgio, Baixia, Márcia, Belo, Adriana, Rocha-Gonçalves, Francisco, Machado, José Carlos, Silva-Cardoso, José, Martins, Elisabete, FATIMA Investigators

المصدر: Cardiology Research & Practice; 4/24/2019, p1-9, 9p

مصطلحات موضوعية: DILATED cardiomyopathy, CARDIAC arrest, LEFT heart ventricle, IMPLANTABLE cardioverter-defibrillators, GENETIC mutation, RISK assessment, GENETIC testing, SEQUENCE analysis, VENTRICULAR ejection fraction, THERAPEUTICS, CARDIOVASCULAR diseases risk factors