Hasil Pencarian - N. Simon Thomas

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  1. 1
    A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service

    A Panel-Agnostic Strategy ‘HiPPo’ Improves Diagnostic Efficiency in the UK Genomic Medicine Service oleh Eleanor G. Seaby, N. Simon Thomas, David Hunt, Diana Baralle, Heidi L. Rehm, Anne O’Donnell-Luria, Sarah Ennis

    Diterbitkan 2023-12-01
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  2. 2
    Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

    Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach oleh Carolina Jaramillo Oquendo, Htoo A. Wai, Wil I. Rich, David J. Bunyan, N. Simon Thomas, David Hunt, Jenny Lord, Andrew G. L. Douglas, Diana Baralle

    Diterbitkan 2024-09-01
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  3. 3
    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

    Whole genome sequencing in the diagnosis of primary ciliary dyskinesia oleh Gabrielle Wheway, N. Simon Thomas, Mary Carroll, Janice Coles, Regan Doherty, Genomics England Research Consortium, Patricia Goggin, Ben Green, Amanda Harris, David Hunt, Claire L. Jackson, Jenny Lord, Vito Mennella, James Thompson, Woolf T. Walker, Jane S. Lucas

    Diterbitkan 2021-09-01
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  4. 4
    Rare dosage abnormalities flanking the SHOX gene

    Rare dosage abnormalities flanking the SHOX gene oleh David J. Bunyan, Evelien Gevers, James I. Hobbs, Philippa J. Duncan-Flavell, Rachel J. Howarth, Muriel Holder-Espinasse, Philippe Klee, Roxane Van-Heurk, Laure Lemmens, Maria Teresa Carminho-Rodrigues, Zainaba Mohamed, Aruna Goturu, Claire R. Hughes, Michal Ajzensztejn, N. Simon Thomas

    Diterbitkan 2021-12-01
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  5. 5
    Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B)

    Evidence that the Ser192Tyr/Arg402Gln in cis Tyrosinase gene haplotype is a disease-causing allele in oculocutaneous albinism type 1B (OCA1B) oleh Siying Lin, Aida Sanchez-Bretaño, Joseph S. Leslie, Katie B. Williams, Helena Lee, N. Simon Thomas, Jonathan Callaway, James Deline, J. Arjuna Ratnayaka, Diana Baralle, Melanie A. Schmitt, Chelsea S. Norman, Sheri Hammond, Gaurav V. Harlalka, Sarah Ennis, Harold E. Cross, Olivia Wenger, Andrew H. Crosby, Emma L. Baple, Jay E. Self

    Diterbitkan 2022-01-01
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  6. 6
    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

    A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project oleh Alexander J. M. Blakes, Htoo A. Wai, Ian Davies, Hassan E. Moledina, April Ruiz, Tessy Thomas, David Bunyan, N. Simon Thomas, Christine P. Burren, Lynn Greenhalgh, Melissa Lees, Amanda Pichini, Sarah F. Smithson, Ana Lisa Taylor Tavares, Peter O’Donovan, Andrew G. L. Douglas, Genomics England Research Consortium, Splicing and Disease Working Group, Nicola Whiffin, Diana Baralle, Jenny Lord

    Diterbitkan 2022-07-01
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  7. 7
    The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum

    The Palestinian primary ciliary dyskinesia population: first results of the diagnostic and genetic spectrum oleh Nisreen Rumman, Mahmoud R. Fassad, Corine Driessens, Patricia Goggin, Nader Abdelrahman, Adel Adwan, Mutaz Albakri, Jagrati Chopra, Regan Doherty, Bishara Fashho, Grace M. Freke, Abdallah Hasaballah, Claire L. Jackson, Mai A. Mohamed, Reda Abu Nema, Mitali P. Patel, Reuben J. Pengelly, Ahmad Qaaqour, Bruna Rubbo, N. Simon Thomas, James Thompson, Woolf T. Walker, Gabrielle Wheway, Hannah M. Mitchison, Jane S. Lucas

    Diterbitkan 2023-04-01
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