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Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
0022-2593
659-668
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Ansari, M., Poke, G., Ferry, Q., Williamson, K., Aldridge, R., Meynert, A. M., Bengani, H., Chan, C. Y., Kayserili, H., Avci, ahin, Hennekam, R. C. M., Lampe, A. K., Redeker, E., Homfray, T., Ross, A., Falkenberg Smeland, M., Mansour, S., Parker, M. J., Cook, J. A., Splitt, M., Fisher, R. B., Fryer, A., Magee, A. C., Wilkie, A., Barnicoat, A., Brady, A. F., Cooper, N. S., Mercer, C., Deshpande, C., Bennett, C. P., Pilz, D. T., Ruddy, D., Cilliers, D., Johnson, D. S., Josifova, D., Rosser, E., Thompson, E. M., Wakeling, E., Kinning, E., Stewart, F., Flinter, F., Girisha, K. M., Cox, H., Firth, H. V., Kingston, H., Wee, J. S., Hurst, J. A., Clayton-Smith, J., Tolmie, J., Vogt, J., Tatton-Brown, K., Chandler, K., Prescott, K., Wilson, L., Behnam, M., McEntagart, M., Davidson, R., Lynch, S.-A., Sisodiya, S., Mehta, S. G., McKee, S. A., Mohammed, S., Holden, S., Park, S.-M., Holder, S. E., Harrison, V., McConnell, V., Lam, W. K., Green, A. J., Donnai, D., Bitner-Glindzicz, M., Donnelly, D. E., Nellaker, C., Taylor, M. S. and FitzPatrick, D. R. (2014) Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. Journal of Medical Genetics, 51 (10), 659-668. (doi:10.1136/jmedgenet-2014-102573).

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More information

Accepted/In Press date: 14 August 2014
Published date: October 2014
Related URLs:
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 368164
URI: http://eprints.soton.ac.uk/id/eprint/368164
DOI: doi:10.1136/jmedgenet-2014-102573
ISSN: 0022-2593
PURE UUID: 3fb011a4-0ca6-4e2d-bfd9-024325bf22d4

Catalogue record

Date deposited: 28 Aug 2014 10:02
Last modified: 14 Mar 2024 17:42

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Contributors

Author: M. Ansari
Author: G. Poke
Author: Q. Ferry
Author: K. Williamson
Author: R. Aldridge
Author: A. M. Meynert
Author: H. Bengani
Author: C. Y. Chan
Author: H. Kayserili
Author: ahin Avci
Author: R. C. M. Hennekam
Author: A. K. Lampe
Author: E. Redeker
Author: T. Homfray
Author: A. Ross
Author: M. Falkenberg Smeland
Author: S. Mansour
Author: M. J. Parker
Author: J. A. Cook
Author: M. Splitt
Author: R. B. Fisher
Author: A. Fryer
Author: A. C. Magee
Author: A. Wilkie
Author: A. Barnicoat
Author: A. F. Brady
Author: N. S. Cooper
Author: C. Mercer
Author: C. Deshpande
Author: C. P. Bennett
Author: D. T. Pilz
Author: D. Ruddy
Author: D. Cilliers
Author: D. S. Johnson
Author: D. Josifova
Author: E. Rosser
Author: E. M. Thompson
Author: E. Wakeling
Author: E. Kinning
Author: F. Stewart
Author: F. Flinter
Author: K. M. Girisha
Author: H. Cox
Author: H. V. Firth
Author: H. Kingston
Author: J. S. Wee
Author: J. A. Hurst
Author: J. Clayton-Smith
Author: J. Tolmie
Author: J. Vogt
Author: K. Tatton-Brown
Author: K. Chandler
Author: K. Prescott
Author: L. Wilson
Author: M. Behnam
Author: M. McEntagart
Author: R. Davidson
Author: S.-A. Lynch
Author: S. Sisodiya
Author: S. G. Mehta
Author: S. A. McKee
Author: S. Mohammed
Author: S. Holden
Author: S.-M. Park
Author: S. E. Holder
Author: V. Harrison
Author: V. McConnell
Author: W. K. Lam
Author: A. J. Green
Author: D. Donnai
Author: M. Bitner-Glindzicz
Author: D. E. Donnelly
Author: C. Nellaker
Author: M. S. Taylor
Author: D. R. FitzPatrick

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