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Issue Date | Title | Author(s) |
---|---|---|
1 August 2013 | An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy | Weedon, MN; Ellard, S; Prindle, MJ; et al. |
16 January 2013 | Biallelic PDX1 (insulin promoter factor 1) mutations causing neonatal diabetes without exocrine pancreatic insufficiency | ; ; ; et al. |