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
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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The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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: |
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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The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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. |
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College: |
Faculty of Medicine, Health and Life Sciences |