Found: 5

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  • Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome.

    Published in:
    American Journal of Medical Genetics. Part A, 2020, v. 182, n. 5, p. 1273, doi. 10.1002/ajmg.a.61541
    By:
    • Arts, Peer;
    • Garland, Jessica;
    • Byrne, Alicia B.;
    • Hardy, Tristan S.E.;
    • Babic, Milena;
    • Feng, Jinghua;
    • Wang, Paul;
    • Ha, Thuong;
    • King‐Smith, Sarah L.;
    • Schreiber, Andreas W.;
    • Crawford, April;
    • Manton, Nick;
    • Moore, Lynette;
    • Barnett, Christopher P.;
    • Scott, Hamish S.
    Publication type:
    Article

  • Glycoengineered keratinocyte library reveals essential functions of specific glycans for all stages of HSV-1 infection.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-023-42669-6
    By:
    • Bagdonaite, Ieva;
    • Marinova, Irina N.;
    • Rudjord-Levann, Asha M.;
    • Pallesen, Emil M. H.;
    • King-Smith, Sarah L.;
    • Karlsson, Richard;
    • Rømer, Troels B.;
    • Chen, Yen-Hsi;
    • Miller, Rebecca L.;
    • Olofsson, Sigvard;
    • Nordén, Rickard;
    • Bergström, Tomas;
    • Dabelsteen, Sally;
    • Wandall, Hans H.
    Publication type:
    Article

  • Compound heterozygous variants in LAMC3 in association with posterior periventricular nodular heterotopia.

    Published in:
    BMC Medical Genomics, 2021, v. 14, n. 1, p. 1, doi. 10.1186/s12920-021-00911-4
    By:
    • De Angelis, Carla;
    • Byrne, Alicia B.;
    • Morrow, Rebecca;
    • Feng, Jinghua;
    • Ha, Thuong;
    • Wang, Paul;
    • Schreiber, Andreas W.;
    • Babic, Milena;
    • Taranath, Ajay;
    • Manton, Nick;
    • King-Smith, Sarah L.;
    • Schwarz, Quenten;
    • Arts, Peer;
    • Scott, Hamish S.;
    • Barnett, Christopher
    Publication type:
    Article

  • Cover, Volume 42, Issue 11.

    Published in:
    Human Mutation, 2021, v. 42, n. 11, p. i, doi. 10.1002/humu.24288
    By:
    • Homan, Claire C.;
    • Venugopal, Parvathy;
    • Arts, Peer;
    • Shahrin, Nur H.;
    • Feurstein, Simone;
    • Rawlings, Lesley;
    • Lawrence, David M.;
    • Andrews, James;
    • King‐Smith, Sarah L.;
    • Harvey, Natasha L.;
    • Brown, Anna L.;
    • Scott, Hamish S.;
    • Hahn, Christopher N.
    Publication type:
    Article

  • GATA2 deficiency syndrome: A decade of discovery.

    Published in:
    Human Mutation, 2021, v. 42, n. 11, p. 1399, doi. 10.1002/humu.24271
    By:
    • Homan, Claire C.;
    • Venugopal, Parvathy;
    • Arts, Peer;
    • Shahrin, Nur H.;
    • Feurstein, Simone;
    • Rawlings, Lesley;
    • Lawrence, David M.;
    • Andrews, James;
    • King‐Smith, Sarah L.;
    • Harvey, Natasha L.;
    • Brown, Anna L.;
    • Scott, Hamish S.;
    • Hahn, Christopher N.
    Publication type:
    Article