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Publications

TAB2 deletions and loss-of-function variants cause a Noonan-like syndrome with mitral valve disease, cardiomyopathy and hypermobility

Unravelling terminal 6p deletions with the help of social media

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder

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

Phenotype-genotype analysis in a large cohort of 250 individuals with a chromosome 6q deletion

Phenotype genotype analysis in a large cohort of 85 individuals with a terminal 6q deletion

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

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