Found: 6

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  • The role of primary care in management of rare diseases in Ireland.

    Published in:
    Irish Journal of Medical Science, 2020, v. 189, n. 3, p. 771, doi. 10.1007/s11845-019-02168-4
    By:
    • Byrne, Niall;
    • Turner, Jacqueline;
    • Marron, Rita;
    • Lambert, Deborah M.;
    • Murphy, Daniel N.;
    • O'Sullivan, Grace;
    • Mason, Maureen;
    • Broderick, Frank;
    • Burke, Mary C.;
    • Casey, Sheila;
    • Doyle, Marguerite;
    • Gibney, David;
    • Mason, Fergus;
    • Molony, David;
    • Ormond, Deirdre;
    • O' Sé, Colm;
    • O'Shea, Conor;
    • Treacy, Eileen P.
    Publication type:
    Article

  • Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism.

    Published in:
    Journal of Autism & Developmental Disorders, 2023, v. 53, n. 1, p. 484, doi. 10.1007/s10803-021-05417-7
    By:
    • Ní Ghrálaigh, Fiana;
    • McCarthy, Ellen;
    • Murphy, Daniel N.;
    • Gallagher, Louise;
    • Lopez, Lorna M.
    Publication type:
    Article

  • The Ensembl gene annotation system.

    Published in:
    Database: The Journal of Biological Databases & Curation, 2016, v. 2016, p. 1, doi. 10.1093/database/baw093
    By:
    • Aken, Bronwen L.;
    • Ayling, Sarah;
    • Barrell, Daniel;
    • Clarke, Laura;
    • Curwen, Valery;
    • Fairley, Susan;
    • Banet, Julio Fernandez;
    • Billis, Konstantinos;
    • Girón, Carlos Garcıa;
    • Hourlier, Thibaut;
    • Howe, Kevin;
    • Kähäri, Andreas;
    • Kokocinski, Felix;
    • Martin, Fergal J.;
    • Murphy, Daniel N.;
    • Nag, Rishi;
    • Ruffier, Magali;
    • Schuster, Michael;
    • Tang, Y. Amy;
    • Vogel, Jan-Hinnerk
    Publication type:
    Article

  • A high-resolution mRNA expression time course of embryonic development in zebrafish.

    Published in:
    eLife, 2017, p. 1, doi. 10.7554/eLife.30860.001
    By:
    • White, Richard J.;
    • Collins, John E.;
    • Sealy, Ian M.;
    • Wali, Neha;
    • Dooley, Christopher M.;
    • Digby, Zsofia;
    • Stemple, Derek L.;
    • Murphy, Daniel N.;
    • Billis, Konstantinos;
    • Hourlier, Thibaut;
    • Füllgrabe, Anja;
    • Davis, Matthew P.;
    • Enright, Anton J.;
    • Busch-Nentwich, Elisabeth M.
    Publication type:
    Article

  • De Novo Origin of Protein-Coding Genes in Murine Rodents.

    Published in:
    PLoS ONE, 2012, v. 7, n. 11, p. 1, doi. 10.1371/journal.pone.0048650
    By:
    • Murphy, Daniel N.;
    • McLysaght, Aoife
    Publication type:
    Article

  • The genetic and biochemical basis of trimethylaminuria in an Irish cohort.

    Published in:
    Journal of Inherited Metabolic Disease Reports, 2019, v. 47, n. 1, p. 35, doi. 10.1002/jmd2.12028
    By:
    • Doyle, Samantha;
    • O'Byrne, James J.;
    • Nesbitt, Mandy;
    • Murphy, Daniel N.;
    • Abidin, Zaza;
    • Byrne, Niall;
    • Pastores, Gregory;
    • Kirk, Richard;
    • Treacy, Eileen P.
    Publication type:
    Article