A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

by Panicos Shangaris, Alison Ho, Andreas Marnerides, Simi George, Mudher AlAdnani, Shu Yau, Mattias Jansson, Jacqueline Hoyle, Joo Wook Ahn, Sian Ellard, Melita Irving, Diana Wellesley, Dharmintra Pasupathy, Muriel Holder-Espinasse
Published 2021-02-01

Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia

by Regina Vontell, Regina Vontell, Veena G. Supramaniam, Alice Davidson, Claire Thornton, Claire Thornton, Andreas Marnerides, Muriel Holder-Espinasse, Suzanne Lillis, Shu Yau, Mattias Jansson, Henrik E. Hagberg, Henrik E. Hagberg, Mary A. Rutherford
Published 2019-05-01

Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

by Ataf H. Sabir, Elizabeth Morley, Jameela Sheikh, Alistair D. Calder, Ana Beleza-Meireles, Moira S. Cheung, Alessandra Cocca, Mattias Jansson, Suzanne Lillis, Yogen Patel, Shu Yau, Christine M. Hall, Amaka C. Offiah, Melita Irving
Published 2021-06-01