Browsing by Author "Akcay, T"
Now showing items 1-5 of 5
Issue Date | Title | Author(s) |
---|---|---|
1 May 2010 | Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations. | Flanagan, SE; Kapoor, RR; Mali, G; et al. |
10 August 2015 | Expanding the Clinical Spectrum Associated With GLIS3 Mutations | Dimitri, P; Habeb, AM; Garbuz, F; et al. |
27 December 2012 | Next-generation sequencing reveals deep intronic cryptic ABCC8 and HADH splicing founder mutations causing hyperinsulinism by pseudoexon activation | Flanagan, SE; Xie, W; Caswell, Richard; et al. |
11 July 2014 | Phenotypic severity of homozygous GCK mutations causing neonatal or childhood-onset diabetes is primarily mediated through effects on protein stability. | Raimondo, A; Chakera, AJ; Thomsen, SK; et al. |
23 October 2021 | Systematic genetic testing for recessively inherited monogenic diabetes: a cross-sectional study in paediatric diabetes clinics | Patel, KA; Ozbek, MN; Yildiz, M; et al. |