Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism by Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, Ş, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism. by Ansari, M, Poke, G, Ferry, Q, Williamson, K, Aldridge, R, Meynert, A, Bengani, H, Chan, C, Kayserili, H, Avci, S, Hennekam, R, Lampe, A, Redeker, E, Homfray, T, Ross, A, Falkenberg Smeland, M, Mansour, S, Parker, M, Cook, J, Splitt, M, Fisher, R, Fryer, A, Magee, A, Wilkie, A, Barnicoat, A

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. by Zaharieva, IT, Sarkozy, A, Munot, P, Manzur, A, O'Grady, G, Rendu, J, Malfatti, E, Amthor, H, Prof Laurent Servais, Urtizberea, JA, Neto, OA, Zanoteli, E, Donkervoort, S, Taylor, J, Dixon, J, Poke, G, Foley, AR, Holmes, C, Williams, G, Holder, M, Yum, S, Medne, L, Quijano-Roy, S, Romero, NB, Fauré, J, Feng, L, Bastaki, L, Davis, MR, Phadke, R, Sewry, CA, Bönnemann, CG, Jungbluth, H, Bachmann, C, Treves, S, Muntoni, F