Publication
Projeto Doenças Genómicas e Rearranjos Cromossómicos: dificuldades diagnósticas e o impacto para a família
| dc.contributor.author | David, Dezso | |
| dc.date.accessioned | 2019-04-09T14:43:39Z | |
| dc.date.available | 2019-04-09T14:43:39Z | |
| dc.date.issued | 2018-06-04 | |
| dc.description.abstract | Structural chromosomal rearrangements (SCRs) have long been recognized as a major source of human developmental anomalies, including, among others, congenital anomalies, and neurodevelopmental, intellectual and cognitive disabilities. Indeed, causal relationship between congenital anomalies and related SCRs are expected to occur in up to 40% of the affected subjects. Approaches used for detection of such SCRs evolved significantly from classical and molecular cytogenetic technologies, such as FISH and microarrays, to whole genome sequencing (WGS) with high physical and low sequence coverage, also known as large-insert WGS. | pt_PT |
| dc.description.version | N/A | pt_PT |
| dc.identifier.uri | http://hdl.handle.net/10400.18/6373 | |
| dc.language.iso | eng | pt_PT |
| dc.subject | Genomic Disorders | pt_PT |
| dc.subject | Structural Chromosomal Rearrangements | pt_PT |
| dc.subject | Doenças Genéticas | pt_PT |
| dc.subject | Doenças Genómicas | pt_PT |
| dc.title | Projeto Doenças Genómicas e Rearranjos Cromossómicos: dificuldades diagnósticas e o impacto para a família | pt_PT |
| dc.type | conference object | |
| dspace.entity.type | Publication | |
| oaire.awardURI | info:eu-repo/grantAgreement/FCT/3599-PPCDT/HMSP-ICT%2F0016%2F2013/PT | |
| oaire.citation.conferencePlace | Lisboa, Portugal | pt_PT |
| oaire.citation.title | Simpósio científico internacional sobre Anomalias Congénitas & Doenças Genómicas: Observação, Pesquisa,. Intervenção, INSA, 4 junho 2018 | pt_PT |
| oaire.fundingStream | 3599-PPCDT | |
| person.familyName | David | |
| person.givenName | Dezso | |
| person.identifier.orcid | 0000-0003-2293-590X | |
| project.funder.identifier | http://doi.org/10.13039/501100001871 | |
| project.funder.name | Fundação para a Ciência e a Tecnologia | |
| rcaap.rights | embargoedAccess | pt_PT |
| rcaap.type | conferenceObject | pt_PT |
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