Arianne C. Bouman
Nijmegen, GE, Netherlands
Last Updated: 09/26/2026
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Found 19 publications
Clinical immunology in chromatinopathies: a scoping review.
Journal: Frontiers in immunology
Published: December 22, 2025
Dimensionality reduction of quantitative EEG and clinical profiles uncover associations with monogenic neurodevelopmental phenotypes in SNAREopathies.
Journal: Frontiers in neuroscience
Published: October 15, 2025
International Clinical Evidence-based Guideline for Kleefstra Syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2025
International clinical evidence-based guideline for Kleefstra syndrome.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: February 14, 2025
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview study.
Journal: European journal of medical genetics
Published: December 16, 2024
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomes.
Journal: European journal of medical genetics
Published: May 21, 2024
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome.
Journal: American journal of human genetics
Published: April 01, 2024
Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes.
Journal: American journal of human genetics
Published: March 18, 2024
Sex-Differences in Post-Procedural Pain Experiences After Thermal Liver Ablations for Liver Tumors: A Retrospective Study.
Journal: Cardiovascular and interventional radiology
Published: February 17, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individuals.
Journal: Journal of medical genetics
Published: October 19, 2023
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link.
Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Published: August 29, 2023
Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studies.
Journal: American journal of medical genetics. Part A
Published: August 09, 2023
Last Updated: 09/26/2026