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Barbara Frentz

University of Groningen

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TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility.

2021 European Journal of Human Genetics
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Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

2020 European Journal of Human Genetics
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The phenotypic spectrum of proximal 6q deletions based on a large cohort derived from social media and literature reports

2018 European Journal of Human Genetics
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Citations (20)