Trijnie Dijkhuizen

Groningen, GR, Netherlands

Last Updated: 09/26/2026

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Found 21 publications

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Significance of incidental copy number variants in the Duchenne muscular dystrophy gene.

Journal: Neuromuscular disorders : NMD

Published: May 28, 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

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.

Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3-Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.

Journal: Circulation. Genomic and precision medicine

Published: September 06, 2023

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

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.

Uncombable hair syndrome due to maternal uniparental disomy of chromosome 1.

Journal: American journal of medical genetics. Part A

Published: September 06, 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

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis.

Journal: Molecular therapy. Methods & clinical development

Published: November 09, 2019

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.

Reinterpretation, reclassification, and its downstream effects: challenges for clinical laboratory geneticists.

Journal: BMC medical genomics

Published: July 08, 2019

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays.

Journal: European journal of human genetics : EJHG

Published: June 20, 2018

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

PRRT2-related phenotypes in patients with a 16p11.2 deletion.

Journal: European journal of medical genetics

Published: April 17, 2018

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

Showing 1-12 of 21

Last Updated: 09/26/2026