Journal article 1626 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
,
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The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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 |
|---|---|
| ISSN: | 0006-8950 1460-2156 |
| Published: |
2013
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| Online Access: |
Check full text
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| URI: | https://cronfa.swan.ac.uk/Record/cronfa16195 |
| first_indexed |
2013-09-26T11:46:17Z |
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| last_indexed |
2018-02-09T04:48:45Z |
| id |
cronfa16195 |
| recordtype |
SURis |
| fullrecord |
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| spelling |
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Rhys Thomas Rhys Thomas true false 2013-09-23 MEDS The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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 Medical School COLLEGE CODE MEDS 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 |
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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 |
2013-12-31T10:49:34Z |
| _version_ |
1850665100313100288 |
| score |
11.08899 |