Rudy N. Van Coster

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 90 publications

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Burst-Suppression EEG in Early Infantile Developmental and Epileptic Encephalopathies: Phenotype, Genotype, and Outcome.

Journal: Neurology

Published: May 26, 2026

mTOR Inhibition Enhances Delivery and Activity of Antisense Oligonucleotides in Uveal Melanoma Cells.

mTOR Inhibition Enhances Delivery and Activity of Antisense Oligonucleotides in Uveal Melanoma Cells.

Journal: Nucleic acid therapeutics

Published: June 30, 2023

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Case report: Thirty-year progression of an EMPF1 encephalopathy due to defective mitochondrial and peroxisomal fission caused by a novel de novo heterozygous DNM1L variant.

Journal: Frontiers in neurology

Published: May 06, 2022

Neonatal lactic acidosis explained by LARS2 defect.

Neonatal lactic acidosis explained by LARS2 defect.

Journal: Pediatric research

Published: May 04, 2022

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

RFC1 repeat expansions: A recurrent cause of sensory and autonomic neuropathy with cough and ataxia.

Journal: European journal of neurology

Published: January 19, 2022

Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression.

Urine lactate concentration as a non-invasive screener for metabolic abnormalities: Findings in children with autism spectrum disorder and regression.

Journal: PloS one

Published: December 28, 2021

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Journal: Orphanet journal of rare diseases

Published: December 17, 2021

Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival.

Correction to: The long non-coding RNA SAMMSON is essential for uveal melanoma cell survival.

Journal: Oncogene

Published: November 16, 2021

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.

Journal: Genome medicine

Published: May 17, 2021

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.

Prolyl endopeptidase-like is a (thio)esterase involved in mitochondrial respiratory chain function.

Journal: iScience

Published: May 05, 2021

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.

Journal: Human molecular genetics

Published: April 27, 2021

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Phenotypes and genotypes in non-consanguineous and consanguineous primary microcephaly: High incidence of epilepsy.

Journal: Molecular genetics & genomic medicine

Published: February 12, 2021

Showing 1-12 of 90

Last Updated: 09/26/2026