Search
Now showing items 1-5 of 5
Results
Issue Date | Title | Author(s) |
---|---|---|
12 October 2017 | Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance | Patel, KA; Kettunen, J; Laakso, M; et al. |
17 July 2018 | PLIN1 haploinsufficiency is not associated with lipodystrophy | Laver, TW; Patel, KA; Colclough, K; et al. |
2 August 2016 | The common p.R114W HNF4A mutation causes a distinct clinical subtype of monogenic diabetes. | Laver, TW; Colclough, K; Shepherd, M; et al. |
18 January 2019 | Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting | ; ; ; et al. |
12 June 2018 | The Common HNF1A Variant I27L is a Modifier of Age at Diabetes Diagnosis in HNF1A-MODY Individuals. | Locke, JM; Saint-Martin, C; Laver, TW; et al. |