DNA Polymerase epsilon deficiency causes IMAGe Syndrome with variable immunodeficiency

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• Finished

  Causes and Consequences of Pathological Adipose Remodelling

  Semple, R.

  UK-based charities

  1/06/18 → 31/05/23

  Project: Research

  • Insulin 100%
  • Mutation 84%
  • Diabetes 80%
  • Spectrum 79%
  • Insulin Resistance 74%

• MC_UU_00007/5 From Microcephaly to Genome Stability, Inflammation and Growth Regulation

  Jackson, A.

  1/04/18 → 31/03/23

  Project: Research

  • Mutation 100%
  • Phenotype 44%
  • Nested Gene 43%
  • Polymerase 33%
  • Dysplasia 32%

• Medical and Regulatory Genomics

  Semple, C.

  1/04/18 → 31/03/23

  Project: Research

  • Mutation 100%
  • Nested Gene 47%
  • Germline 33%
  • Phenotype 33%
  • Krukenberg Tumor 31%

• The Scottish Genomes Partnership (SGP)

  Aitman, T.

  MRC

  1/02/16 → 29/02/20

  Project: Research

  • Haplotype 100%
  • Mutation 96%
  • Phenotype 92%
  • Glycosylation 80%
  • Protein Sequencing 80%

• The Scottish Genomes Partnership

  Aitman, T.

  UK central government bodies/local authorities, health and hospital authorities

  1/02/16 → 29/02/20

  Project: Research

  • Haplotype 100%
  • Mutation 96%
  • Phenotype 92%
  • Glycosylation 80%
  • Protein Sequencing 80%