Adelaide Research & Scholarship
Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/98581
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Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Terhal, P. | - |
| dc.contributor.author | Nievelstein, R. | - |
| dc.contributor.author | Verver, E. | - |
| dc.contributor.author | Topsakal, V. | - |
| dc.contributor.author | van Dommelen, P. | - |
| dc.contributor.author | Hoornaert, K. | - |
| dc.contributor.author | Le Merrer, M. | - |
| dc.contributor.author | Zankl, A. | - |
| dc.contributor.author | Simon, M. | - |
| dc.contributor.author | Smithson, S. | - |
| dc.contributor.author | Marcelis, C. | - |
| dc.contributor.author | Kerr, B. | - |
| dc.contributor.author | Clayton-Smith, J. | - |
| dc.contributor.author | Kinning, E. | - |
| dc.contributor.author | Mansour, S. | - |
| dc.contributor.author | Elmslie, F. | - |
| dc.contributor.author | Goodwin, L. | - |
| dc.contributor.author | van der Hout, A. | - |
| dc.contributor.author | Veenstra-Knol, H. | - |
| dc.contributor.author | Herkert, J. | - |
| dc.contributor.author | et al. | - |
| dc.date.issued | 2015 | - |
| dc.identifier.citation | American Journal of Medical Genetics Part A, 2015; 167(3):461-475 | - |
| dc.identifier.issn | 1552-4825 | - |
| dc.identifier.issn | 1552-4833 | - |
| dc.identifier.uri | http://hdl.handle.net/2440/98581 | - |
| dc.description | Article first published online: 21 JAN 2015 | - |
| dc.description.abstract | Abstract not available | - |
| dc.description.statementofresponsibility | Paulien A. Terhal ... Elizabeth M. Thompson ... et al. | - |
| dc.language.iso | en | - |
| dc.publisher | Wiley | - |
| dc.rights | © 2015 Wiley Periodicals, Inc. | - |
| dc.source.uri | http://dx.doi.org/10.1002/ajmg.a.36922 | - |
| dc.subject | spondyloepiphyseal dysplasia; SEDC;genotype–phenotype; review; COL2A1 | - |
| dc.title | A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype | - |
| dc.type | Journal article | - |
| dc.identifier.doi | 10.1002/ajmg.a.36922 | - |
| pubs.publication-status | Published | - |
| Appears in Collections: | Aurora harvest 3 Paediatrics publications | |
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