Concepedia

Author

Aafke Engwerda

University Medical Center GroningenORCID

Also Known As

Aafke Engwerda, Engwerda, A.

18

Publications

141

Citations

6

H-Index

9

Concepts

All Affiliations

University Medical Center GroningenUniversity of GroningenVanboeijen
AE

About

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

Top Concepts

#ConceptH-IndexPublicationsCitations

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Medicine

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2

Public Health

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Pathology

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Cardiovascular Genetics

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Genetic Epidemiology

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Aafke Engwerda

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4

Publications

108

Citations

4

H-Index

YearCitations

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,

European Journal of Human Genetics

2018

55

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

Aafke Engwerda, Erika Leenders, Barbara Frentz,

European Journal of Human Genetics

2021

30

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,

Orphanet Journal of Rare Diseases

2023

13

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

Aafke Engwerda, Barbara Frentz, Eleana Rraku,

Orphanet Journal of Rare Diseases

2023

10

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