Browse by Person

2012

Karmiloff-Smith, Annette and Broadbent, H. and Farran, E.K. and Longhi, E. and D'Souza, Dean and Metcalfe, K. and Tassabehji, M. and Wu, Rachel and Senju, Atsushi and Happé, F. and Turnpenny, P. and Sansbury, F. (2012) Social cognition in Williams Syndrome: genotype/phenotype insights from partial deletion patients. Frontiers in Psychology 3 , ISSN 1664-1078.

July 2014

Broadbent, H. and Farran, E.K. and Chin, E. and Metcalfe, K. and Tassabehji, M. and Turnpenny, P. and Sansbury, F. and Meaburn, Emma L. and Karmiloff-Smith, Annette (2014) Genetic contributions to visuospatial cognition in Williams syndrome: insights from two contrasting partial deletion patients. Journal of Neurodevelopmental Disorders 6 (1), p. 18. ISSN 1866-1955.

19 December 2016

Meyer, E. and Carss, K.J and Rankin, J. and Nichols, J.M.E and Grozeva, D. and Joseph, A.P and Mencacci, N.E. and Papandreou, A. and Ng, J. and Barral, S. and Ngoh, A. and Ben-Pazi, H. and Willemsen, M.A. and Arkadir, D. and Barnicoat, A. and Bergman, H. and Bhate, S. and Boys, A. and Darin, N. and Foulds, N. and Gutowski, N. and Hills, A. and Houlden, H. and Hurst, J.A. and Israel, Z. and Kaminska, M. and Limousin, P. and Lumsden, D. and McKee, S. and Misra, S. and Mohammed, S.S. and Nakou, V. and Nicolai, J. and Nilsson, M. and Pall, H. and Peall, K.J. and Peters, G.B. and Prabhakar, P. and Reuter, M.S. and Rump, P. and Segel, R. and Sinnema, M. and Smith, M. and Turnpenny, P. and White, S.M. and Wieczorek, D. and Wiethoff, S. and Wilson, B.T. and Winter, G. and Wragg, C. and Pope, S. and Heales, S.J.H. and Morrogh, D. and Pittman, A. and Carr, L. J. and Perez-Dueñas, B. and Lin, J.-P. and Reis, A. and Gahl, W.A. and Toro, C. and Bhatia, K.P. and Wood, N.W. and Kamsteeg, E.-J. and Chong, W.K. and Gissen, P. and Topf, Maya and Dale, R.C. and Chubb, J.R. and Raymond, F.L. and Kurian, M.A. (2016) Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics 49 , pp. 223-237. ISSN 1061-4036.