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European Journal of Medical Genetics|August 19, 2025
Parental experiences and needs in Kleefstra Syndrome: A semi-structured interview studySietske A L van Till, Arianne Bouman, Tjitske Kleefstra, et al.
Frontiers in Immunology|April 13, 2026
Clinical immunology in chromatinopathies: a scoping reviewDieke Jans, Burcu Al, Arianne Bouman, et al.
European Journal of Medical Genetics|September 19, 2024
Exploring Kleefstra syndrome cohort phenotype characteristics: Prevalence insights from caregiver-reported outcomesTanja Zdolšek Draksler, Arianne Bouman, Alenka Guček, et al.
American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics|January 11, 2023
The role of the gut microbiota in patients with Kleefstra syndromeMirjam Bloemendaal, Priscilla Vlaming, Anneke de Boer, et al.
American Journal of Medical Genetics. Part A|December 29, 2023
Growth, body composition, and endocrine-metabolic profiles of individuals with Kleefstra syndrome provide directions for clinical management and translational studiesArianne Bouman, Joyce M Geelen, Joost Kummeling, et al.
Genes|February 25, 2022
Following Excitation/Inhibition Ratio Homeostasis from Synapse to EEG in Monogenetic Neurodevelopmental DisordersLisa Geertjens, Torben W van Voorst, Arianne Bouman, et al.
Journal of Neural Transmission (Vienna, Austria : 1996)|November 27, 2022
GenIDA: an international participatory database to gain knowledge on health issues related to genetic forms of neurodevelopmental disordersPauline Burger, Florent Colin, Axelle Strehle, et al.
American Journal of Medical Genetics. Part A|June 23, 2023
Clinical and radiological assessment of scoliosis in Koolen-de Vries syndromeArianne Bouman, Romy N Bouwmeester, Leo A van Vlimmeren, et al.
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|January 10, 2024
Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic linkSunil K Vasireddi, Tanja Zdolsek Draksler, Arianne Bouman, et al.
Frontiers in Neuroscience|February 12, 2026
Dimensionality reduction of quantitative EEG and clinical profiles uncover associations with monogenic neurodevelopmental phenotypes in SNAREopathiesAdditya Sharma, Shilpa Anand, Cece C Kooper, et al.
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