Now showing items 1-7 of 7

    Issue DateTitleAuthor(s)
    8 January 2019An Amish founder variant consolidates disruption of CEP55 as a cause of hydranencephaly and renal dysplasia  Rawlins, LE; Jones, H; Wenger, O; et al.
    23 August 2018Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia  Laver, TW; Wakeling, M; Hua, JHY; et al.
    4 February 2019Copy number variation of LINGO1 in familial dystonic tremor  Alakbarzade, V; Iype, T; Chioza, BA; et al.
    16 January 2018MAFA missense mutation causes familial insulinomatosis and diabetes mellitus  Iacovazzo, D; Flanagan, S; Walker, E; et al.
    16 January 2018MAFA missense mutation causes familial insulinomatosis and diabetes mellitus  Iacovazzo, D; Flanagan, S; Walker, E; et al.
    27 December 2019De novo mutations in EIF2B1 affecting eIF2 signaling cause neonatal/early onset diabetes and transient hepatic dysfunction  De Franco, E; Caswell, R; Johnson, M; et al.
    9 November 2020YIPF5 mutations cause neonatal diabetes and microcephaly through endoplasmic reticulum stress  De Franco, E; Lytrivi, M; Ibrahim, H; et al.