Publication
The bigger the better? Evaluation of the value of large multi-gene panels in Portuguese cardiomyopathy genetic testing
| dc.contributor.author | Baixia, Márcia | |
| dc.contributor.author | Sousa, Sónia | |
| dc.contributor.author | Pina, Maria J. | |
| dc.contributor.author | Silva, Raquel M | |
| dc.contributor.author | Cirnes, Luís | |
| dc.contributor.author | Canedo, Paulo | |
| dc.contributor.author | Castedo, Sérgio | |
| dc.contributor.author | Machado, José C, | |
| dc.date.accessioned | 2020-09-14T11:07:02Z | |
| dc.date.available | 2020-09-14T11:07:02Z | |
| dc.date.issued | 2019 | |
| dc.description.abstract | Introduction: Genetic testing of cardiomyopathies went through major changes in the last few years, from sequential Sanger sequencing of the most likely gene candidates, to multigene panels by NGS, with an ever increasing number of genes analyzed. | pt_PT |
| dc.description.version | info:eu-repo/semantics/publishedVersion | pt_PT |
| dc.identifier.citation | 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. | |
| dc.identifier.uri | http://hdl.handle.net/10400.22/16252 | |
| dc.language.iso | eng | pt_PT |
| dc.relation.publisherversion | https://journals.lww.com/md-journal/Fulltext/2020/02280/Proceedings_of_the_23rd_Annual_Meeting_of_the.41.aspx | pt_PT |
| dc.subject | Cardiomyopathy genetic | pt_PT |
| dc.title | The bigger the better? Evaluation of the value of large multi-gene panels in Portuguese cardiomyopathy genetic testing | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 11 | pt_PT |
| oaire.citation.issue | 9+ | pt_PT |
| oaire.citation.startPage | 10 | pt_PT |
| oaire.citation.title | Medicine | pt_PT |
| oaire.citation.volume | 99 | pt_PT |
| person.familyName | Cirnes | |
| person.givenName | Luís | |
| person.identifier.ciencia-id | A412-0AC5-0780 | |
| person.identifier.orcid | 0000-0002-2348-5878 | |
| rcaap.rights | openAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
| relation.isAuthorOfPublication | 17b01de2-29be-4571-8edd-d7fb6154b26c | |
| relation.isAuthorOfPublication.latestForDiscovery | 17b01de2-29be-4571-8edd-d7fb6154b26c |
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