Aafke Engwerda

Publication Activity (10 Years)

Years Active: 2021-2023
Publications (10 Years): 9

Top Topics

Cross Sectional

Top Venues

Orphanet journal of rare diseases

European journal of human genetics : EJHG

This page only lists publications with an associated author ORCID identifier.

Publications

Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F Simoes de Souza, Morris A Swertz, Mirjam Plantinga, Wilhelmina S Kerstjens-Frederikse, Adelita V Ranchor, Conny M A van Ravenswaaij-Arts
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F Simoes de Souza, Morris A Swertz, Mirjam Plantinga, Wilhelmina S Kerstjens-Frederikse, Adelita V Ranchor, Conny M A van Ravenswaaij-Arts
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Wilhelmina S Kerstjens-Frederikse, Nicole Corsten-Janssen, Trijnie Dijkhuizen, Conny M A van Ravenswaaij-Arts
The phenotypic spectrum of terminal 6q deletions based on a large cohort derived from social media and literature: a prominent role for DLL1. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Barbara Frentz, Eleana Rraku, Nadia F Simoes de Souza, Morris A Swertz, Mirjam Plantinga, Wilhelmina S Kerstjens-Frederikse, Adelita V Ranchor, Conny M A van Ravenswaaij-Arts
Parent-reported phenotype data on chromosome 6 aberrations collected via an online questionnaire: data consistency and data availability. Orphanet journal of rare diseases 18 (1) (2023)
Aafke Engwerda, Kristin M Abbott, Marrit M Hitzert, Conny M A van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse
The role of TBX18 in congenital heart defects in humans not confirmed. European journal of human genetics : EJHG (2022)
Aafke Engwerda, Erika K S M Leenders, Barbara Frentz, Paulien A Terhal, Katharina Löhner, Bert B A de Vries, Trijnie Dijkhuizen, Yvonne J Vos, Tuula Rinne, Maarten P van den Berg, Marc T R Roofthooft, Patrick Deelen, Conny M A van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse
TAB2 deletions and variants cause a highly recognisable syndrome with mitral valve disease, cardiomyopathy, short stature and hypermobility. European journal of human genetics : EJHG 29 (11) (2021)