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Publications

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

The role of TBX18 in congenital heart defects in humans not confirmed

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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