Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/82002
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Full metadata record
DC Field | Value | Language |
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dc.contributor.author | Berkovic, S. | - |
dc.contributor.author | Gecz, J. | - |
dc.date.issued | 2014 | - |
dc.identifier.citation | Lancet Neurology, 2014; 13(1):24-25 | - |
dc.identifier.issn | 1474-4422 | - |
dc.identifier.issn | 1474-4465 | - |
dc.identifier.uri | http://hdl.handle.net/2440/82002 | - |
dc.description.statementofresponsibility | Samuel F Berkovic, Jozef Gecz | - |
dc.language.iso | en | - |
dc.publisher | Elsevier | - |
dc.rights | Copyright © Berkovic et al. Open Access article distributed under the terms of CC BY | - |
dc.source.uri | http://dx.doi.org/10.1016/s1474-4422(13)70237-0 | - |
dc.subject | Humans | - |
dc.subject | Hand Deformities, Congenital | - |
dc.subject | Craniofacial Abnormalities | - |
dc.subject | Hearing Loss, Sensorineural | - |
dc.subject | Nails, Malformed | - |
dc.subject | Carrier Proteins | - |
dc.subject | Membrane Proteins | - |
dc.subject | Nerve Tissue Proteins | - |
dc.subject | Sequence Analysis, DNA | - |
dc.subject | Phenotype | - |
dc.subject | Internationality | - |
dc.subject | Female | - |
dc.subject | Male | - |
dc.subject | Intellectual Disability | - |
dc.subject | Exome | - |
dc.title | Phenotype-genotype complexities: opening DOORS | - |
dc.type | Journal article | - |
dc.identifier.doi | 10.1016/S1474-4422(13)70237-0 | - |
pubs.publication-status | Published | - |
dc.identifier.orcid | Gecz, J. [0000-0002-7884-6861] | - |
Appears in Collections: | Aurora harvest 4 Paediatrics publications |
Files in This Item:
File | Description | Size | Format | |
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hdl_82002.pdf | Published version | 3.93 MB | Adobe PDF | View/Open |
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