Concepedia

Aafke Engwerda

AE

4

Publications

108

Citations

4

H-Index

2018

Active since

Affiliations

University Medical Center Groningen(Current)

University of Groningen

Vanboeijen

Aafke Engwerda is an author at University Medical Center Groningen specializing in cardiovascular genetics, public health, and cardiovascular disease.

ORCID

Top concepts

Publications per year

2018–2023

4

Publications

4

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

Aafke Engwerda, Barbara Frentz, A. Lya den Ouden et al. · European Journal of Human Genetics · 2018 · 55 citations · Full text

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

Aafke Engwerda, Erika Leenders, Barbara Frentz et al. · European Journal of Human Genetics · 2021 · 30 citations · Full text

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The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1

Aafke Engwerda, Wilhelmina S. Kerstjens‐Frederikse, Nicole Corsten‐Janssen et al. · Orphanet Journal of Rare Diseases · 2023 · 13 citations · Full text

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

Aafke Engwerda, Barbara Frentz, Eleana Rraku et al. · Orphanet Journal of Rare Diseases · 2023 · 10 citations · Full text

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