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- 2024
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Mark
A genomic mutational constraint map using variation in 76,156 human genomes
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- Contribution to journal › Article
- 2023
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Mark
Genetic analysis of blood molecular phenotypes reveals common properties in the regulatory networks affecting complex traits
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- Contribution to journal › Article
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Mark
Genome-wide association study and functional characterization identifies candidate genes for insulin-stimulated glucose uptake
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- Contribution to journal › Article
- 2021
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Mark
Determinants of penetrance and variable expressivity in monogenic metabolic conditions across 77,184 exomes
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- Contribution to journal › Article
- 2017
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Mark
A low-frequency inactivating AKT2 variant enriched in the finnish population is associated with fasting insulin levels and type 2 diabetes risk
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- Contribution to journal › Article
- 2016
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Mark
New approaches beyond genetics : towards precision medicine in diabetes
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- Contribution to journal › Debate/Note/Editorial
- 2012
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Mark
γ-Aminobutyric acid (GABA) signalling in human pancreatic islets is altered in type 2 diabetes.
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- Contribution to journal › Article
- 2011
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Mark
Survival of rat pancreatic islets is partly controlled by a TCF7L2-p53-p53INP1 dependent pathway
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- Contribution to journal › Article
- 2009
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Mark
A common variant in PNPLA3, which encodes adiponutrin, is associated with liver fat content in humans
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- Contribution to journal › Article
- 2007
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Mark
Impact of the peroxisome proliferator activated receptor-gamma coactivator-1 beta (PGC-1 beta) Ala203Pro polymorphism on in vivo metabolism, PGC-1 beta expression and fibre type composition in human skeletal muscle
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- Contribution to journal › Article
- 2006
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Mark
A polymorphism in the adiponectin gene influences adiponectin expression levels in visceral fat in obese subjects
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- Contribution to journal › Article
- 2002
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Mark
Characterization of a naturally occurring mutation (L107I) in the HNF1 alpha (MODY3) gene.
(
- Contribution to journal › Article
- 2001
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Mark
Functional consequences of mutations in the MODY4 gene (IPF1) and coexistence with MODY3 mutations
(
- Contribution to journal › Article