Please use this identifier to cite or link to this item:
https://www.um.edu.mt/library/oar/handle/123456789/25228
Full metadata record
DC Field | Value | Language |
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dc.date.accessioned | 2018-01-02T09:15:29Z | - |
dc.date.available | 2018-01-02T09:15:29Z | - |
dc.date.issued | 2015-03 | - |
dc.identifier.citation | Vella, J., Borg, J., Grech, L., Galdies, R., Scerri, J., Cassar, W.,...Felice, A. E. (2015). Rare disease research and the Malta biobank. RD-Connect Annual Meeting, Palma de Mallorca. | en_GB |
dc.identifier.uri | https://www.um.edu.mt/library/oar//handle/123456789/25228 | - |
dc.description.abstract | The Malta BioBank forms part of the new inter-faculty Centre of Molecular Medicine and BioBanking at the University of Malta and is the national node of the Bio-Banking and Bio-Molecular Resources Research Infrastructure (BBMRI.mt). The clinical catalogue holds a number of rare disease collections including haemoglobinopathies, neuromuscular and neurodegenerative diseases, renal disorders and various cancers. The Department of Physiology & Biochemistry and the Department of Pathology within the Faculty of Medicine & Surgery at the University of Malta caries out various lines of research amongst which are KLF mutation analysis, familial breast cancer, mitochondrial disorders, sudden cardiac death and rare kidney disorders. | en_GB |
dc.language.iso | en | en_GB |
dc.publisher | University of Malta. Department of Pathology | en_GB |
dc.rights | info:eu-repo/semantics/openAccess | en_GB |
dc.subject | Rare diseases -- Malta | en_GB |
dc.subject | Biobanks -- Malta | en_GB |
dc.title | Rare disease research and the Malta biobank | en_GB |
dc.type | conferenceObject | en_GB |
dc.rights.holder | The copyright of this work belongs to the author(s)/publisher. The rights of this work are as defined by the appropriate Copyright Legislation or as modified by any successive legislation. Users may access this work and can make use of the information contained in accordance with the Copyright Legislation provided that the author must be properly acknowledged. Further distribution or reproduction in any format is prohibited without the prior permission of the copyright holder. | en_GB |
dc.bibliographicCitation.conferencename | RD-Connect Annual Meeting | en_GB |
dc.bibliographicCitation.conferenceplace | Palma de Mallorca, 03/2015 | en_GB |
dc.description.reviewed | N/A | en_GB |
dc.contributor.creator | Vella, Joanna | - |
dc.contributor.creator | Borg, Joseph J. | - |
dc.contributor.creator | Grech, Laura | - |
dc.contributor.creator | Galdies, Ruth | - |
dc.contributor.creator | Scerri, Jeanesse | - |
dc.contributor.creator | Cassar, Wilhelmina | - |
dc.contributor.creator | Scerri, Christian A. | - |
dc.contributor.creator | Grech, Godfrey | - |
dc.contributor.creator | Soler, Doriette | - |
dc.contributor.creator | Said, Edith | - |
dc.contributor.creator | Borg, Isabella | - |
dc.contributor.creator | Vella, Norbert | - |
dc.contributor.creator | Camilleri-Podesta, Marie Therese | - |
dc.contributor.creator | Ellul, Bridget | - |
dc.contributor.creator | Abela, Mark | - |
dc.contributor.creator | Grima, David | - |
dc.contributor.creator | Zammit, Esther | - |
dc.contributor.creator | Pace, Nikolai Paul | - |
dc.contributor.creator | Felice, Alex | - |
dc.contributor.creator | Said Conti, Valerie | - |
Appears in Collections: | Scholarly Works - FacHScABS Scholarly Works - FacM&SAna Scholarly Works - FacM&SPat |
Files in This Item:
File | Description | Size | Format | |
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Conference_Rare disease research and the Malta biobank.pdf | 653.45 kB | Adobe PDF | View/Open |
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