Marije C. Meuwissen

Edegem, VLG 2650, Belgium

Last Updated: 09/26/2026

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Found 58 publications

Correction: Recessive congenital methemoglobinemia: a systematic review of reported cases.

Correction: Recessive congenital methemoglobinemia: a systematic review of reported cases.

Journal: Orphanet journal of rare diseases

Published: June 05, 2026

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.

Journal: American journal of human genetics

Published: June 05, 2026

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Abnormal ClC-3/TMEM9-mediated endosomal ion transport in CLCN3-associated neurodevelopmental disease.

Journal: EMBO molecular medicine

Published: April 25, 2026

Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report.

Intrafamilial and Age-Dependent Variability in Resistance to Thyroid Hormone Alpha: A Case Report.

Journal: Hormone research in paediatrics

Published: January 15, 2026

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

A Systematic Review Illustrates the Expanding Clinical and Molecular Landscape of Helsmoortel-Van der Aa Syndrome.

Journal: Brain sciences

Published: October 31, 2025

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

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Androgens mediate sexual dimorphism in Pilarowski-Bjornsson Syndrome.

Journal: medRxiv : the preprint server for health sciences

Published: May 19, 2025

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

A frameshift variant in activity-dependent neuroprotective protein (ADNP) causes nucleocytoskeletal alterations in a dizygotic male twin: a case study.

Journal: Clinical epigenetics

Published: April 11, 2025

Recessive congenital methemoglobinemia: a systematic review of reported cases.

Recessive congenital methemoglobinemia: a systematic review of reported cases.

Journal: Orphanet journal of rare diseases

Published: March 17, 2025

"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".

"Phenotypic and genotypic insights, counseling strategies, and follow-up in 24 individuals with filamin a deficiency: findings from a retrospective cohort study".

Journal: Acta neurologica Belgica

Published: February 03, 2025

Showing 1-12 of 58

Last Updated: 09/26/2026