Journal article 1144 views
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
Thomas D. Cushion,
Alex R. Paciorkowski,
Daniela T. Pilz,
Jonathan G.L. Mullins,
Laurie E. Seltzer,
Robert W. Marion,
Emily Tuttle,
Dalia Ghoneim,
Susan L. Christian,
Seo-Kyung Chung 
,
Mark I. Rees,
William B. Dobyns,
Jonathan Mullins ,
Mark Rees
,
Mark I. Rees,
William B. Dobyns,
Jonathan Mullins ,
Mark Rees
The American Journal of Human Genetics, Volume: 94, Issue: 4, Pages: 634 - 641
Swansea University Authors:
Seo-Kyung Chung , Jonathan Mullins , Mark Rees
Full text not available from this repository: check for access using links below.
DOI (Published version): 10.1016/j.ajhg.2014.03.009
Abstract
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy
| Published in: | The American Journal of Human Genetics |
|---|---|
| Published: |
2014
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa17821 |
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| spelling |
2016-11-17T16:22:04.3316781 v2 17821 2014-04-16 De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false 4cf2dddedbe1dacb506ec925fdbd5b40 0000-0003-0144-2962 Jonathan Mullins Jonathan Mullins true false 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false 2014-04-16 BMS Journal Article The American Journal of Human Genetics 94 4 634 641 31 12 2014 2014-12-31 10.1016/j.ajhg.2014.03.009 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2016-11-17T16:22:04.3316781 2014-04-16T13:24:26.0127093 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine Thomas D. Cushion 1 Alex R. Paciorkowski 2 Daniela T. Pilz 3 Jonathan G.L. Mullins 4 Laurie E. Seltzer 5 Robert W. Marion 6 Emily Tuttle 7 Dalia Ghoneim 8 Susan L. Christian 9 Seo-Kyung Chung 0000-0002-5008-8384 10 Mark I. Rees 11 William B. Dobyns 12 Jonathan Mullins 0000-0003-0144-2962 13 Mark Rees 14 |
| title |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
| spellingShingle |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy Seo-Kyung Chung Jonathan Mullins Mark Rees |
| title_short |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
| title_full |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
| title_fullStr |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
| title_full_unstemmed |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
| title_sort |
De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy |
| author_id_str_mv |
d99cbf3a557e9ee66556dfd95d66a5d8 4cf2dddedbe1dacb506ec925fdbd5b40 10f39a4e9c2ee00d453cd84c10667ac8 |
| author_id_fullname_str_mv |
d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung 4cf2dddedbe1dacb506ec925fdbd5b40_***_Jonathan Mullins 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees |
| author |
Seo-Kyung Chung Jonathan Mullins Mark Rees |
| author2 |
Thomas D. Cushion Alex R. Paciorkowski Daniela T. Pilz Jonathan G.L. Mullins Laurie E. Seltzer Robert W. Marion Emily Tuttle Dalia Ghoneim Susan L. Christian Seo-Kyung Chung Mark I. Rees William B. Dobyns Jonathan Mullins Mark Rees |
| format |
Journal article |
| container_title |
The American Journal of Human Genetics |
| container_volume |
94 |
| container_issue |
4 |
| container_start_page |
634 |
| publishDate |
2014 |
| institution |
Swansea University |
| doi_str_mv |
10.1016/j.ajhg.2014.03.009 |
| college_str |
Faculty of Medicine, Health and Life Sciences |
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|
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facultyofmedicinehealthandlifesciences |
| hierarchy_top_title |
Faculty of Medicine, Health and Life Sciences |
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facultyofmedicinehealthandlifesciences |
| hierarchy_parent_title |
Faculty of Medicine, Health and Life Sciences |
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Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine |
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2014-12-31T03:20:44Z |
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1763750596196696064 |
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10.998116 |