학술논문
Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism
Document Type
Article
Author
Ansari, M.; Poke, G.; Williamson, K.; Aldridge, R.; Meynert, A.M.; Bengani, H.; Chan, C.Y.; Taylor, M.S.; FitzPatrick, D.R.; Ferry, Q.; Nellåker, C.; Kayserili, H.; Avci, Ş.; Hennekam, R.C.M.; Redeker, E.; Lampe, A.K.; Lam, W.K.; Homfray, T.; Mansour, S.; Tatton-Brown, K.; McEntagart, M.; Ross, A.; Smeland, M.F.; Parker, M.J.; Cook, J.A.; Johnson, D.S.; Splitt, M.; Fisher, R.B.; Fryer, A.; Magee, A.C.; Stewart, F.; McKee, S.A.; McConnell, V.; Donnelly, D.E.; Wilkie, A.; Barnicoat, A.; Rosser, E.; Hurst, J.A.; Wilson, L.; Bitner-Glindzicz, M.; Brady, A.F.; Wakeling, E.; Holder, S.E.; Cooper, N.S.; Cox, H.; Vogt, J.; Mercer, C.; Harrison, V.; Deshpande, C.; Ruddy, D.; Josifova, D.; Flinter, F.; Mohammed, S.; Bennett, C.P.; Prescott, K.; Pilz, D.T.; Cilliers, D.; Thompson, E.M.; Kinning, E.; Tolmie, J.; Davidson, R.; Girisha, K.M.; Firth, H.V.; Mehta, S.G.; Holden, S.; Park, S.-M.; Kingston, H.; Clayton-Smith, J.; Chandler, K.; Donnai, D.; Wee, J.S.; Behnam, M.; Lynch, S.-A.; Green, A.J.; Sisodiya, S.
Source
In: Journal of Medical Genetics . (Journal of Medical Genetics, 2014, 51(10):659-668)
Subject
Language
English
ISSN
14686244
00222593
00222593