Adelaide Research & Scholarship
Please use this identifier to cite or link to this item:
https://hdl.handle.net/2440/102896
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Full metadata record
| DC Field | Value | Language |
|---|---|---|
| dc.contributor.author | Sukalo, M. | - |
| dc.contributor.author | Fiedler, A. | - |
| dc.contributor.author | Guzman, C. | - |
| dc.contributor.author | Spranger, S. | - |
| dc.contributor.author | Addor, M. | - |
| dc.contributor.author | Mcheik, J. | - |
| dc.contributor.author | Benavent, M. | - |
| dc.contributor.author | Cobben, J. | - |
| dc.contributor.author | Gillis, L. | - |
| dc.contributor.author | Shealy, A. | - |
| dc.contributor.author | Deshpande, C. | - |
| dc.contributor.author | Bozorgmehr, B. | - |
| dc.contributor.author | Everman, D. | - |
| dc.contributor.author | Stattin, E. | - |
| dc.contributor.author | Liebelt, J. | - |
| dc.contributor.author | Keller, K. | - |
| dc.contributor.author | Bertola, D. | - |
| dc.contributor.author | van Karnebeek, C. | - |
| dc.contributor.author | Bergmann, C. | - |
| dc.contributor.author | Liu, Z. | - |
| dc.contributor.author | et al. | - |
| dc.date.issued | 2014 | - |
| dc.identifier.citation | Human Mutation, 2014; 35(5):521-531 | - |
| dc.identifier.issn | 1098-1004 | - |
| dc.identifier.issn | 1098-1004 | - |
| dc.identifier.uri | http://hdl.handle.net/2440/102896 | - |
| dc.description.abstract | Abstract not available | - |
| dc.description.statementofresponsibility | Maja Sukalo ... Jan Liebelt .. et al. | - |
| dc.language.iso | en | - |
| dc.publisher | Wiley | - |
| dc.rights | © 2014 Wiley Periodicals, Inc. | - |
| dc.source.uri | http://dx.doi.org/10.1002/humu.22538 | - |
| dc.subject | Johanson-Blizzard syndrome; UBR1; exocrine pancreatic insufficiency; aplasia of alae nasi; cognitive impairment | - |
| dc.title | Mutations in the Human UBR1 Gene and the Associated Phenotypic Spectrum | - |
| dc.type | Journal article | - |
| dc.identifier.doi | 10.1002/humu.22538 | - |
| pubs.publication-status | Published | - |
| dc.identifier.orcid | Singh, A. [0000-0003-1336-6493] | - |
| Appears in Collections: | Aurora harvest 7 Medicine publications | |
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