Showing 1 - 3 results of 3 for search 'Shu Yau', query time: 0.03s Refine Results
  1. 1
    A hemizygous mutation in the FOXP3 gene (IPEX syndrome) resulting in recurrent X-linked fetal hydrops: a case report

    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
    Get full text
    Article
  2. 2
    Diagnostic yield of rare skeletal dysplasia conditions in the radiogenomics era

    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
    Get full text
    Article
  3. 3
    Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia

    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
    Get full text
    Article

Search Tools: