Found: 3

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  • Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

    Published in:
    Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
    By:
    • Ha, Thuong T.;
    • Burgess, Rosemary;
    • Newman, Morgan;
    • Moey, Ching;
    • Mandelstam, Simone A.;
    • Gardner, Alison E.;
    • Ivancevic, Atma M.;
    • Pham, Duyen;
    • Kumar, Raman;
    • Smith, Nicholas;
    • Patel, Chirag;
    • Malone, Stephen;
    • Ryan, Monique M.;
    • Calvert, Sophie;
    • van Eyk, Clare L.;
    • Lardelli, Michael;
    • Berkovic, Samuel F.;
    • Leventer, Richard J.;
    • Richards, Linda J.;
    • Scheffer, Ingrid E.
    Publication type:
    Article

  • Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.

    Published in:
    Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
    By:
    • Field, Michael J.;
    • Kumar, Raman;
    • Hackett, Anna;
    • Kayumi, Sayaka;
    • Shoubridge, Cheryl A.;
    • Ewans, Lisa J.;
    • Ivancevic, Atma M.;
    • Dudding‐Byth, Tracy;
    • Carroll, Renée;
    • Kroes, Thessa;
    • Gardner, Alison E.;
    • Sullivan, Patricia;
    • Ha, Thuong T.;
    • Schwartz, Charles E.;
    • Cowley, Mark J.;
    • Dinger, Marcel E.;
    • Palmer, Elizabeth E.;
    • Christie, Louise;
    • Shaw, Marie;
    • Roscioli, Tony
    Publication type:
    Article

  • A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.

    Published in:
    American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1059, doi. 10.1002/ajmg.a.37527
    By:
    • Ha, Thuong T.;
    • Sadleir, Lynette G.;
    • Mandelstam, Simone A.;
    • Paterson, Sarah J.;
    • Scheffer, Ingrid E.;
    • Gecz, Jozef;
    • Corbett, Mark A.
    Publication type:
    Article