Publicação
Doenças Lisossomais de Sobrecarga: Perspetiva Geral e Novas Abordagens de Diagnóstico Molecular por Next Generation Sequecing
| dc.contributor.author | Alves, Sandra | |
| dc.date.accessioned | 2019-03-25T14:42:11Z | |
| dc.date.available | 2019-03-25T14:42:11Z | |
| dc.date.issued | 2018-02-28 | |
| dc.description.abstract | Rare genetic diseases, the diagnosis is difficult due to considerable clinical overlap and clinical variability. Usually multiple samples and tests are often required before a diagnosis is reached. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6294 | |
| dc.language.iso | por | pt_PT |
| dc.subject | Doenças Lisossomais de Sobrecarga: | pt_PT |
| dc.subject | Diagnóstico Molecular | pt_PT |
| dc.subject | Next Generation Sequecing | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Genética Humana | pt_PT |
| dc.title | Doenças Lisossomais de Sobrecarga: Perspetiva Geral e Novas Abordagens de Diagnóstico Molecular por Next Generation Sequecing | pt_PT |
| dc.type | lecture | |
| dspace.entity.type | Publication | |
| oaire.citation.conferencePlace | Porto, Portugal | pt_PT |
| oaire.citation.title | Rare Disease Day 2018 - DESVENDAR: Seminário "Novas perspectivas", INSA, 28 fev 2018 | pt_PT |
| rcaap.rights | restrictedAccess | pt_PT |
| rcaap.type | lecture | pt_PT |