Journal article 966 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The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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 |
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| 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 |
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| Abstract: |
The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases. A multidisciplinary paper including new modelling data and novel phenotypic features. |
|---|---|
| College: |
Faculty of Medicine, Health and Life Sciences |