Adelaide Research & Scholarship
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https://hdl.handle.net/2440/114728
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| Type: | Journal article |
| Title: | Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations |
| Author: | Corbett, M. Turner, S. Gardner, A. Silver, J. Stankovich, J. Leventer, R. Derry, C. Carroll, R. Ha, T. Scheffer, I. Bahlo, M. Jackson, G. Mackey, D. Berkovic, S. Gecz, J. |
| Citation: | European Journal of Medical Genetics, 2017; 60(8):437-443 |
| Publisher: | Elsevier Masson SAS |
| Issue Date: | 2017 |
| ISSN: | 1769-7212 1878-0849 |
| Statement of Responsibility: | Mark A. Corbett, Samantha J. Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J. Leventer, Christopher P. Derry Renée Carroll, Thuong Ha, Ingrid E. Scheffer, Melanie Bahlo, Graeme D. Jackson, David A. Mackey, Samuel F. Berkovic, Jozef Gecz |
| Abstract: | Abstract not available |
| Keywords: | COL18A1 Polymicrogyria Epilepsy Retina Exome sequencing Knobloch syndrome |
| Description: | Available online 8 June 2017 |
| Rights: | Crown Copyright © 2017 Published by Elsevier Masson SAS. All rights reserved. |
| DOI: | 10.1016/j.ejmg.2017.06.002 |
| Grant ID: | http://purl.org/au-research/grants/nhmrc/628952 http://purl.org/au-research/grants/nhmrc/1054618 http://purl.org/au-research/grants/nhmrc/1041920 http://purl.org/au-research/grants/nhmrc/1002098 http://purl.org/au-research/grants/nhmrc/1104831 |
| Published version: | http://dx.doi.org/10.1016/j.ejmg.2017.06.002 |
| Appears in Collections: | Aurora harvest 8 Genetics publications |
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