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Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
Andrew E. Fry,
Elliott Rees,
Rose Thompson,
Kiran Mantripragada,
Penny Blake,
Glyn Jones,
Sian Morgan,
Sian Jose,
Hood Mugalaasi,
Hayley Archer,
Emma McCann,
Angus Clarke,
Clare Taylor,
Sally Davies,
Frances Gibbon,
Johann Te Water Naude,
Louise Hartley,
Gareth Thomas,
Catharine White,
Jaya Natarajan,
Rhys H. Thomas,
Cheney Drew,
Seo-Kyung Chung 
,
Mark Rees,
Peter Holmans,
Michael J. Owen,
George Kirov,
Daniela T. Pilz,
Michael P. Kerr
,
Mark Rees,
Peter Holmans,
Michael J. Owen,
George Kirov,
Daniela T. Pilz,
Michael P. Kerr
BMC Medical Genetics, Volume: 17, Issue: 1
Swansea University Authors:
Seo-Kyung Chung , Mark Rees
-
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DOI (Published version): 10.1186/s12881-016-0294-2
Abstract
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy
| Published in: | BMC Medical Genetics |
|---|---|
| ISSN: | 1471-2350 |
| Published: |
2016
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa27423 |
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2016-11-04T13:36:36.4839893 v2 27423 2016-04-26 Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 2016-04-26 BMS Journal Article BMC Medical Genetics 17 1 1471-2350 31 3 2016 2016-03-31 10.1186/s12881-016-0294-2 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2016-11-04T13:36:36.4839893 2016-04-26T13:17:14.3218315 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Andrew E. Fry 1 Elliott Rees 2 Rose Thompson 3 Kiran Mantripragada 4 Penny Blake 5 Glyn Jones 6 Sian Morgan 7 Sian Jose 8 Hood Mugalaasi 9 Hayley Archer 10 Emma McCann 11 Angus Clarke 12 Clare Taylor 13 Sally Davies 14 Frances Gibbon 15 Johann Te Water Naude 16 Louise Hartley 17 Gareth Thomas 18 Catharine White 19 Jaya Natarajan 20 Rhys H. Thomas 21 Cheney Drew 22 Seo-Kyung Chung 0000-0002-5008-8384 23 Mark Rees 24 Peter Holmans 25 Michael J. Owen 26 George Kirov 27 Daniela T. Pilz 28 Michael P. Kerr 29 0027423-25102016125314.pdf FryPathogenicCopyNumberVariants.pdf 2016-10-25T12:53:14.9730000 Output 480761 application/pdf Version of Record true 2016-10-25T00:00:00.0000000 This article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. true |
| title |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy |
| spellingShingle |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy Seo-Kyung Chung Mark Rees |
| title_short |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy |
| title_full |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy |
| title_fullStr |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy |
| title_full_unstemmed |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy |
| title_sort |
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy |
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d99cbf3a557e9ee66556dfd95d66a5d8 10f39a4e9c2ee00d453cd84c10667ac8 |
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d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees |
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Seo-Kyung Chung Mark Rees |
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Andrew E. Fry Elliott Rees Rose Thompson Kiran Mantripragada Penny Blake Glyn Jones Sian Morgan Sian Jose Hood Mugalaasi Hayley Archer Emma McCann Angus Clarke Clare Taylor Sally Davies Frances Gibbon Johann Te Water Naude Louise Hartley Gareth Thomas Catharine White Jaya Natarajan Rhys H. Thomas Cheney Drew Seo-Kyung Chung Mark Rees Peter Holmans Michael J. Owen George Kirov Daniela T. Pilz Michael P. Kerr |
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BMC Medical Genetics |
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2016 |
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1471-2350 |
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10.1186/s12881-016-0294-2 |
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Faculty of Medicine, Health and Life Sciences |
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