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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, 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The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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
ISSN: 0006-8950 1460-2156
Published: 2013
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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Abstract: The first genotype-phenotype study in hyperekplexia, including unpublished gene negative cases.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: Swansea University Medical School