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Issue DateTitleAuthor(s)
24 May 2016Chromosome 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder. Clissold, RL; Shaw-Smith, C; Turnpenny, P; et al.
31 March 2016Successful transfer to sulfonylureas in KCNJ11 neonatal diabetes is determined by the mutation and duration of diabetes Babiker, T; Vedovato, N; Patel, K; et al.
2 April 2014GATA4 mutations are a cause of neonatal and childhood-onset diabetes Shaw-Smith, C; De Franco, E; Lango Allen, H; et al.
10 August 2015Expanding the Clinical Spectrum Associated With GLIS3 Mutations Dimitri, P; Habeb, AM; Garbuz, F; et al.
1 September 2016Prematurity should not prevent genetic testing for neonatal diabetes Besser, RE; Flanagan, SE; Mackay, DG; et al.
8 April 2016Differential regulation of serum microRNA expression by HNF1β and HNF1α transcription factors. Fendler, W; Madzio, J; Kozinski, K; et al.
27 April 2016Neonatal diabetes caused by a homozygous KCNJ11 mutation demonstrates that tiny changes in ATP sensitivity markedly affect diabetes risk. Vedovato, N; Cliff, E; Proks, P; et al.
2 August 2016The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes. Laver, TW; Colclough, K; Shepherd, M; et al.
3 May 2017Dominant ER Stress-Inducing WFS1 Mutations Underlie a Genetic Syndrome of Neonatal/Infancy-Onset Diabetes, Congenital Sensorineural Deafness, and Congenital Cataracts De Franco, E; Flanagan, SE; Yagi, T; et al.
29 June 2016Analysis of cell-free fetal DNA for non-invasive prenatal diagnosis in a family with neonatal diabetes De Franco, E; Caswell, R; Houghton, JA; et al.
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    Hattersley, AT32
    Ellard, S30
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