Diane Beysen

Edegem, VLG, Belgium

Last Updated: 09/26/2026

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Found 20 publications

Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular Events.

Elucidating the Genetic Landscape of Cerebral Palsy Following Perinatal Cerebrovascular Events.

Journal: Pediatric neurology

Published: August 13, 2025

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: August 12, 2025

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

Accumulation of complex I assembly intermediates in a novel presentation of RTN4IP1-related disorder with developmental delay, ataxia and dyskinesia.

Journal: Molecular genetics and metabolism

Published: August 01, 2025

A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.

A novel cause of type 1 von Willebrand disease: impaired exocytosis of Weibel-Palade bodies due to biallelic MADD variants.

Journal: Blood

Published: December 06, 2024

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

RNU4-2-Related Neurodevelopmental Disorder Is Associated With a Recognisable Facial Gestalt.

Journal: Clinical genetics

Published: July 24, 2024

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

RORA-neurodevelopmental disorder: A unique triad of developmental disabilities, cerebellar anomalies, and myoclonic seizures.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 28, 2024

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Congenital Myasthenic Syndromes in Belgium: Genetic and Clinical Characterization of Pediatric and Adult Patients.

Journal: Pediatric neurology

Published: March 10, 2024

The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study.

The Genetic Puzzle of Cerebral Palsy: Results of a Monocentric Study.

Journal: Pediatric neurology

Published: December 01, 2023

Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.

Novel presentation of AADC deficiency as a mild phenotype with exercise-induced dystonic crises: A case report.

Journal: Heliyon

Published: August 18, 2023

Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.

Confirmation of gray matter heterotopia as part of the DDX23 phenotypic spectrum.

Journal: American journal of medical genetics. Part A

Published: June 07, 2023

Role of CAMK2D in neurodevelopment and associated conditions.

Role of CAMK2D in neurodevelopment and associated conditions.

Journal: American journal of human genetics

Published: April 10, 2023

A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.

A Severe Form of Familial Desminopathy Due to a Homozygous Nonsense DES Variant in Two Siblings.

Journal: Neuropediatrics

Published: June 08, 2022

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Last Updated: 09/26/2026