Maaike Vreeburg

Maastricht, LI, Netherlands

Last Updated: 09/26/2026

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Found 40 publications

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Journal: Journal of dermatological science

Published: October 17, 2025

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.

Journal: The British journal of dermatology

Published: April 30, 2025

Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants.

Expanding phenotypic insights of palmoplantar keratodermas based on novel FAM83G variants.

Journal: The British journal of dermatology

Published: July 12, 2024

Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption.

Exploring shared clinical features and successful therapeutic interventions in CARD14-associated papulosquamous eruption.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: June 25, 2024

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.

Journal: American journal of human genetics

Published: April 01, 2024

HRAS mosaicism in linear palmoplantar keratoderma.

HRAS mosaicism in linear palmoplantar keratoderma.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: August 04, 2023

Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.

Alitretinoin as a Treatment Modality for Ichthyosis in Women of Childbearing Age: A Case Series and Review of the Literature.

Journal: Dermatology (Basel, Switzerland)

Published: March 29, 2023

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Expanding the molecular and clinical spectrum of autosomal recessive congenital ichthyosis caused by pathogenic variants in NIPAL4 and PNPLA1 and evaluation of novel therapeutic interventions.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: January 30, 2023

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.

Palmoplantar keratoderma as a clinical feature of pathogenic variants in the filaggrin gene.

Journal: Journal of the European Academy of Dermatology and Venereology : JEADV

Published: July 26, 2022

Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.

Monoallelic CRMP1 gene variants cause neurodevelopmental disorder.

Journal: eLife

Published: June 04, 2022

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Rapid exome sequencing as a first-tier test in neonates with suspected genetic disorder: results of a prospective multicenter clinical utility study in the Netherlands.

Journal: European journal of pediatrics

Published: June 02, 2022

STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

STS pathogenic variants in a Dutch patient cohort clinically suspected for X-linked ichthyosis show genetic heterogeneity.

Journal: The British journal of dermatology

Published: March 04, 2022

Showing 1-12 of 40

Last Updated: 09/26/2026