Works matching AU McDermott, John H


Results: 27
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    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

    Published in:
    2019
    By:
    • Vaz, Frédéric M;
    • McDermott, John H;
    • Alders, Mariëlle;
    • Wortmann, Saskia B;
    • Kölker, Stefan;
    • Pras-Raves, Mia L;
    • Vervaart, Martin A T;
    • Lenthe, Henk van;
    • Luyf, Angela C M;
    • Elfrink, Hyung L;
    • Metcalfe, Kay;
    • Cuvertino, Sara;
    • Clayton, Peter E;
    • Yarwood, Rebecca;
    • Lowe, Martin P;
    • Lovell, Simon;
    • Rogers, Richard C;
    • Study, Deciphering Developmental Disorders;
    • Kampen, Antoine H C van;
    • Ruiter, Jos P N
    Publication type:
    journal article
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    Pre-emptive pharmacogenetic testing in the acute hospital setting: a cross-sectional study Open Access.

    Published in:
    QJM: An International Journal of Medicine, 2025, v. 118, n. 3, p. 154, doi. 10.1093/qjmed/hcae200
    By:
    • McDermott, John H;
    • Burke, Kerry;
    • Fullerton, Neil;
    • O'Sullivan, James;
    • Alex, Aleina;
    • Ingham, Amy;
    • Sharma, Videha;
    • Godfrey, Nicola;
    • Odudu, Aghogho;
    • Syed, Tania;
    • Stevens, Andrew;
    • Beynon, Rhys;
    • Greaves, Nicholas;
    • Akam, Daniel;
    • Mirza, Selman;
    • Wilson, Paul;
    • Wright, Stuart;
    • Payne, Katherine;
    • Newman, William G
    Publication type:
    Article
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    Rapid Point-of-Care Genotyping to Avoid Aminoglycoside-Induced Ototoxicity in Neonatal Intensive Care.

    Published in:
    JAMA Pediatrics, 2022, v. 176, n. 5, p. 486, doi. 10.1001/jamapediatrics.2022.0187
    By:
    • McDermott, John H.;
    • Mahaveer, Ajit;
    • James, Rachel A.;
    • Booth, Nicola;
    • Turner, Mark;
    • Harvey, Karen E.;
    • Miele, Gino;
    • Beaman, Glenda M.;
    • Stoddard, Duncan C.;
    • Tricker, Karen;
    • Corry, Rachel J.;
    • Garlick, Julia;
    • Ainsworth, Shaun;
    • Beevers, Thomas;
    • Bruce, Iain A.;
    • Body, Richard;
    • Ulph, Fiona;
    • MacLeod, Rhona;
    • Roberts, Peter L.;
    • Wilson, Paul M.
    Publication type:
    Article
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    The diagnostic utility of clinical exome sequencing in 60 patients with hearing loss disorders: A single‐institution experience.

    Published in:
    Clinical Otolaryngology, 2021, v. 46, n. 6, p. 1257, doi. 10.1111/coa.13826
    By:
    • Molina‐Ramírez, Leslie P.;
    • Burkitt‐Wright, Emma MM.;
    • Saeed, Haroon;
    • McDermott, John H.;
    • Kyle, Claire;
    • Wright, Ronnie;
    • Campbell, Christopher;
    • Bhaskar, Sanjeev S.;
    • Taylor, Algy;
    • Dutton, Laura;
    • Forde, Claire;
    • Metcalfe, Kay;
    • Smith, Audrey;
    • Clayton‐Smith, Jill;
    • Douzgou, Sofia;
    • Chandler, Kate;
    • Briggs, Tracy A.;
    • Banka, Siddharth;
    • Newman, William G.;
    • Gokhale, David
    Publication type:
    Article
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    Letters to the Editor.

    Published in:
    Journal of Paediatrics & Child Health, 2023, v. 59, n. 3, p. 600, doi. 10.1111/jpc.16376
    By:
    • McDermott, John H;
    • Newman, William G
    Publication type:
    Article
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    A review of the propriety of thyroid ultrasound referrals and their follow-up burden.

    Published in:
    Endocrine (1355008X), 2019, v. 65, n. 3, p. 595, doi. 10.1007/s12020-019-01920-1
    By:
    • Davenport, Colin;
    • Alderson, Jack;
    • Yu, Ivan G.;
    • Magner, Aoiffe C;
    • M. O'Brien, Diarmuid;
    • Ghiollagain, Meabh Ni;
    • Kileen, Sinead;
    • Heneghan, Mark;
    • Sabah, Muna;
    • Leen, Eamon;
    • McDermott, John H.;
    • Sreenan, Seamus;
    • Hickey, Neil;
    • Kyaw-Tun, Tommy
    Publication type:
    Article
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    Diagnosing and Preventing Hearing Loss in the Genomic Age.

    Published in:
    Trends in Hearing, 2019, v. 23, p. N.PAG, doi. 10.1177/2331216519878983
    By:
    • McDermott, John H.;
    • Molina-Ramírez, Leslie P;
    • Bruce, Iain A;
    • Mahaveer, Ajit;
    • Turner, Mark;
    • Miele, Gino;
    • Body, Richard;
    • Mahood, Rachel;
    • Ulph, Fiona;
    • MacLeod, Rhona;
    • Harvey, Karen;
    • Booth, Nicola;
    • Demain, Leigh A. M.;
    • Wilson, Paul;
    • Black, Graeme C.;
    • Morton, Cynthia C.;
    • Newman, William G
    Publication type:
    Article
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    Diagnosing and Preventing Hearing Loss in the Genomic Age.

    Published in:
    Trends in Hearing, 2019, v. 23, p. N.PAG, doi. 10.1177/2331216519878983
    By:
    • McDermott, John H.;
    • Molina-Ramírez, Leslie P;
    • Bruce, Iain A;
    • Mahaveer, Ajit;
    • Turner, Mark;
    • Miele, Gino;
    • Body, Richard;
    • Mahood, Rachel;
    • Ulph, Fiona;
    • MacLeod, Rhona;
    • Harvey, Karen;
    • Booth, Nicola;
    • Demain, Leigh A. M.;
    • Wilson, Paul;
    • Black, Graeme C.;
    • Morton, Cynthia C.;
    • Newman, William G
    Publication type:
    Article
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