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Publications by Joanna Poulton

Bi-Allelic Loss-Of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia

American Journal of Human Genetics
Genetics
2019English

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

American Journal of Human Genetics
Genetics
2019English

The Association of the Mitochondrial DNA OriB Variant (16184–16193 Polycytosine Tract) With Type 2 Diabetes in Europid Populations

Diabetologia
Internal MedicineEndocrinologyMetabolismDiabetes
2013English

Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease

Human Mutation
Genetics
2013English

Insights Into Pancreatic Β Cell Energy Metabolism Using Rodent Β Cell Models

Wellcome Open Research
BiochemistryMedicineGeneticsMolecular Biology
2017English

Insights Into Pancreatic Β Cell Energy Metabolism Using Rodent Β Cell Models

Wellcome Open Research
BiochemistryMedicineGeneticsMolecular Biology
2017English

Is Placental Mitochondrial Function a Regulator That Matches Fetal and Placental Growth to Maternal Nutrient Intake in the Mouse?

PLoS ONE
Multidisciplinary
2015English

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