Journal article 1153 views
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay
R. H Thomas,
S.-K Chung,
S. E Wood,
T. D Cushion,
C. J. G Drew,
C. L Hammond,
J.-F Vanbellinghen,
J. G. L Mullins,
M. I Rees,
Jonathan Mullins
,
Mark Rees,
Seo-Kyung Chung
,
Rhys Thomas
Brain
Swansea University Authors:
Jonathan Mullins , Mark Rees, Seo-Kyung Chung
, Rhys Thomas
Full text not available from this repository: check for access using links below.
DOI (Published version): 10.1093/brain/awt207
Abstract
The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases. A multidisciplinary paper including new modelling data and novel phenotypic features.
Published in: | Brain |
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ISSN: | 0006-8950 1460-2156 |
Published: |
2013
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URI: | https://cronfa.swan.ac.uk/Record/cronfa16195 |
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2013-09-26T11:46:17Z |
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2018-02-09T04:48:45Z |
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2013-09-26T15:29:14.6131601 v2 16195 2013-09-23 Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay 4cf2dddedbe1dacb506ec925fdbd5b40 0000-0003-0144-2962 Jonathan Mullins Jonathan Mullins true false 10f39a4e9c2ee00d453cd84c10667ac8 Mark Rees Mark Rees true false d99cbf3a557e9ee66556dfd95d66a5d8 0000-0002-5008-8384 Seo-Kyung Chung Seo-Kyung Chung true false a72f54fb5e66054a91c600a464a9f1b5 Rhys Thomas Rhys Thomas true false 2013-09-23 BMS The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases. A multidisciplinary paper including new modelling data and novel phenotypic features. Journal Article Brain 0006-8950 1460-2156 31 12 2013 2013-12-31 10.1093/brain/awt207 COLLEGE NANME Biomedical Sciences COLLEGE CODE BMS Swansea University 2013-09-26T15:29:14.6131601 2013-09-23T04:14:54.4509871 Faculty of Medicine, Health and Life Sciences Swansea University Medical School - Medicine R. H Thomas 1 S.-K Chung 2 S. E Wood 3 T. D Cushion 4 C. J. G Drew 5 C. L Hammond 6 J.-F Vanbellinghen 7 J. G. L Mullins 8 M. I Rees 9 Jonathan Mullins 0000-0003-0144-2962 10 Mark Rees 11 Seo-Kyung Chung 0000-0002-5008-8384 12 Rhys Thomas 13 |
title |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
spellingShingle |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay Jonathan Mullins Mark Rees Seo-Kyung Chung Rhys Thomas |
title_short |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
title_full |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
title_fullStr |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
title_full_unstemmed |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
title_sort |
Genotype-phenotype correlations in hyperekplexia: apnoeas, learning difficulties and speech delay |
author_id_str_mv |
4cf2dddedbe1dacb506ec925fdbd5b40 10f39a4e9c2ee00d453cd84c10667ac8 d99cbf3a557e9ee66556dfd95d66a5d8 a72f54fb5e66054a91c600a464a9f1b5 |
author_id_fullname_str_mv |
4cf2dddedbe1dacb506ec925fdbd5b40_***_Jonathan Mullins 10f39a4e9c2ee00d453cd84c10667ac8_***_Mark Rees d99cbf3a557e9ee66556dfd95d66a5d8_***_Seo-Kyung Chung a72f54fb5e66054a91c600a464a9f1b5_***_Rhys Thomas |
author |
Jonathan Mullins Mark Rees Seo-Kyung Chung Rhys Thomas |
author2 |
R. H Thomas S.-K Chung S. E Wood T. D Cushion C. J. G Drew C. L Hammond J.-F Vanbellinghen J. G. L Mullins M. I Rees Jonathan Mullins Mark Rees Seo-Kyung Chung Rhys Thomas |
format |
Journal article |
container_title |
Brain |
publishDate |
2013 |
institution |
Swansea University |
issn |
0006-8950 1460-2156 |
doi_str_mv |
10.1093/brain/awt207 |
college_str |
Faculty of Medicine, Health and Life Sciences |
hierarchytype |
|
hierarchy_top_id |
facultyofmedicinehealthandlifesciences |
hierarchy_top_title |
Faculty of Medicine, Health and Life Sciences |
hierarchy_parent_id |
facultyofmedicinehealthandlifesciences |
hierarchy_parent_title |
Faculty of Medicine, Health and Life Sciences |
department_str |
Swansea University Medical School - Medicine{{{_:::_}}}Faculty of Medicine, Health and Life Sciences{{{_:::_}}}Swansea University Medical School - Medicine |
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0 |
active_str |
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description |
The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases. A multidisciplinary paper including new modelling data and novel phenotypic features. |
published_date |
2013-12-31T03:18:32Z |
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1763750458212483072 |
score |
11.021648 |