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Phenotype

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NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.

scientific article

SIRT1 transgenic mice show phenotypes resembling calorie restriction

scientific article (publication date: 13 August 2007)

Leukemic IDH1 and IDH2 mutations result in a hypermethylation phenotype, disrupt TET2 function, and impair hematopoietic differentiation

scientific article (publication date: 14 December 2010)

Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations

scientific article