Please use this identifier to cite or link to this item: http://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.
RMID: 0030071647
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
Appears in Collections:Genetics publications

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