B. Frentz

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

B. D. de Vries, M. P. van den Berg, Patrick Deelen, 2021, European Journal of Human Genetics.

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

M. Swertz, C. V. van Ravenswaaij-Arts, A. D. den Ouden, 2018, European Journal of Human Genetics.

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

M. Swertz, C. V. van Ravenswaaij-Arts, A. D. den Ouden, 2018, European Journal of Human Genetics.

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

M. Swertz, T. Dijkhuizen, B. Flapper, 2018 .

Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability

M. Swertz, C. V. van Ravenswaaij-Arts, A. Ranchor, 2022, Orphanet Journal of Rare Diseases.