Hasil Pencarian - Huw B Thomas

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  1. 1
    RNA-seq reveals activation of both common and cytokine-specific pathways following neutrophil priming.

    RNA-seq reveals activation of both common and cytokine-specific pathways following neutrophil priming. oleh Helen L Wright, Huw B Thomas, Robert J Moots, Steven W Edwards

    Diterbitkan 2013-01-01
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  2. 2
    Whose Gene Is It Anyway? The Effect of Preparation Purity on Neutrophil Transcriptome Studies.

    Whose Gene Is It Anyway? The Effect of Preparation Purity on Neutrophil Transcriptome Studies. oleh Huw B Thomas, Robert J Moots, Steven W Edwards, Helen L Wright

    Diterbitkan 2015-01-01
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  3. 3
    Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy

    Pathogenic Intronic Splice-Affecting Variants in <i>MYBPC3</i> in Three Patients with Hypertrophic Cardiomyopathy oleh Katherine A. Wood, Jamie M. Ellingford, James Eden, Huw B. Thomas, Raymond T. O’Keefe, Claire Hopton, William G. Newman

    Diterbitkan 2021-06-01
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  4. 4
    Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells.

    Modelling the developmental spliceosomal craniofacial disorder Burn-McKeown syndrome using induced pluripotent stem cells. oleh Katherine A Wood, Charlie F Rowlands, Huw B Thomas, Steven Woods, Julieta O'Flaherty, Sofia Douzgou, Susan J Kimber, William G Newman, Raymond T O'Keefe

    Diterbitkan 2020-01-01
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  5. 5
    Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome

    Early B-cell Factor 3–Related Genetic Disease Can Mimic Urofacial Syndrome oleh J. Robert Harkness, Glenda M. Beaman, Keng W. Teik, Sangeet Sidhu, John A. Sayer, Heather J. Cordell, Huw B. Thomas, Katherine Wood, Helen M. Stuart, Adrian S. Woolf, William G. Newman

    Diterbitkan 2020-10-01
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  6. 6
    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders

    Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders oleh Charlie Rowlands, Huw B. Thomas, Jenny Lord, Htoo A. Wai, Gavin Arno, Glenda Beaman, Panagiotis Sergouniotis, Beatriz Gomes-Silva, Christopher Campbell, Nicole Gossan, Claire Hardcastle, Kevin Webb, Christopher O’Callaghan, Robert A. Hirst, Simon Ramsden, Elizabeth Jones, Jill Clayton-Smith, Andrew R. Webster, Genomics England Research Consortium, Andrew G. L. Douglas, Raymond T. O’Keefe, William G. Newman, Diana Baralle, Graeme C. M. Black, Jamie M. Ellingford

    Diterbitkan 2021-10-01
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  7. 7
    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

    Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease oleh Alfredo Dueñas Rey, Marta del Pozo Valero, Manon Bouckaert, Katherine A Wood, Filip Van den Broeck, Malena Daich Varela, Huw B Thomas, Mattias Van Heetvelde, Marieke De Bruyne, Stijn Van de Sompele, Miriam Bauwens, Hanne Lenaerts, Quinten Mahieu, Dragana Josifova, Genomics England Research Consortium, Carlo Rivolta, Raymond T O’Keefe, Jamie Ellingford, Andrew R Webster, Gavin Arno, Carmen Ayuso, Julie De Zaeytijd, Bart P Leroy, Elfride De Baere, Frauke Coppieters

    Diterbitkan 2024-01-01
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