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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 Orcid Logo, Mark Rees, Seo-Kyung Chung Orcid Logo, Rhys Thomas

Brain

Swansea University Authors: Jonathan Mullins Orcid Logo, Mark Rees, Seo-Kyung Chung Orcid Logo, 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The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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
ISSN: 0006-8950 1460-2156
Published: 2013
Online Access: Check full text

URI: https://cronfa.swan.ac.uk/Record/cronfa16195
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first_indexed 2013-09-26T11:46:17Z
last_indexed 2018-02-09T04:48:45Z
id cronfa16195
recordtype SURis
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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Rhys Thomas Rhys Thomas true false 2013-09-23 BMS The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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 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 Swansea University Medical School
hierarchytype
hierarchy_top_id swanseauniversitymedicalschool
hierarchy_top_title Swansea University Medical School
hierarchy_parent_id swanseauniversitymedicalschool
hierarchy_parent_title Swansea University Medical School
department_str Medicine{{{_:::_}}}Swansea University Medical School{{{_:::_}}}Medicine
document_store_str 0
active_str 0
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 2013-12-31T03:25:50Z
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score 10.9201975