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Last Updated: 02/24/2026
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Found 2901 publications
Recurrent hypocalcaemic seizures: diagnosing 22q11.2 deletion syndrome in early adulthood.
Journal: BMJ case reports
Published: January 12, 2026
A Case Series of Hypogonadism in 22q11.2 Deletion Syndrome: Is It Time to Check the Gonadal Axis?
Journal: Journal of investigative medicine high impact case reports
Published: November 30, 2025
Right Aortic Arch With Bilateral Ductus Arteriosus, Aberrant Left Subclavian Artery, Interrupted Left Carotid Artery.
Journal: Echocardiography (Mount Kisco, N.Y.)
Published: October 18, 2025
Efficacy of glutamate-GABA modulator riluzole for the treatment of cognitive and psychotic symptoms in 22q11.2 deletion syndrome: A placebo-controlled crossover trial.
Journal: Psychiatry research
Published: October 08, 2025
Maternal Genotype and Dietary Vitamin A Modify Aortic Arch Phenotypes in a Mouse Model of 22q11DS.
Journal: International journal of molecular sciences
Published: September 29, 2025
Bezafibrate improves mitochondrial function, blood-brain barrier integrity, and social deficits in models of 22q11.2 deletion syndrome.
Journal: Science translational medicine
Published: August 20, 2025
RNA Polymerase I Dysfunction Underlying Craniofacial Syndromes: Integrated Genetic Analysis Reveals Parallels to 22q11.2 Deletion Syndrome.
Journal: Genes
Published: July 22, 2025
Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report.
Journal: Pediatrics
Published: July 20, 2025
Single cell RNA-seq analysis of hematopoietic cell types in 22q11.2 deletion syndrome reveals significant changes to non-T cells.
Journal: Pediatric allergy and immunology : official publication of the European Society of Pediatric Allergy and Immunology
Published: July 17, 2025
Chronic inflammatory arthritis in 22q11.2 deletion (DiGeorge) syndrome: a multicentric study.
Journal: Orphanet journal of rare diseases
Published: June 15, 2025
A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss-of-Function of DMRT2.
Journal: American journal of medical genetics. Part A
Published: June 08, 2025
Last Updated: 02/24/2026