Aafke T. Engwerda

Groningen, GR, Netherlands

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 11 publications

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG

Published: April 02, 2025

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Presenting Clinical Information on Rare Chromosome 6 Disorders via a Parent-Centered Website: Parental and Professional Views.

Journal: American journal of medical genetics. Part A

Published: January 20, 2025

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Developing Del2Phen: A Novel Phenotype Description Tool for Chromosome Deletions.

Journal: Human mutation

Published: November 20, 2024

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

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

Journal: European journal of human genetics : EJHG

Published: November 07, 2022

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

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

Journal: Orphanet journal of rare diseases

Published: November 01, 2022

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

The phenotypic spectrum of terminal and subterminal 6p deletions based on a social media-derived cohort and literature review.

Journal: Orphanet journal of rare diseases

Published: October 31, 2022

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

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

Journal: Orphanet journal of rare diseases

Published: October 31, 2022

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

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

Journal: European journal of human genetics : EJHG

Published: January 14, 2021

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

EPHA7 haploinsufficiency is associated with a neurodevelopmental disorder.

Journal: Clinical genetics

Published: November 27, 2020

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

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

Journal: European journal of human genetics : EJHG

Published: September 27, 2017

Ligand effects of NHC-iridium catalysts for signal amplification by reversible exchange (SABRE).

Ligand effects of NHC-iridium catalysts for signal amplification by reversible exchange (SABRE).

Journal: Chemical communications (Cambridge, England)

Published: July 18, 2013

Showing 1-11 of 11

Last Updated: 09/26/2026