Last Updated: 09/26/2026
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Found 27 publications
Delineating the clinical and molecular spectrum of the neurodevelopmental disorder associated with SET.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 11, 2025
Genetic and Clinical Predictors of Hearing Loss Among Patients with CHARGE Syndrome.
Journal: Journal of the American Academy of Audiology
Published: February 27, 2025
Case Report: Association of Ocular Colobomas With a Novel Missense Variant in CDC42, a Member of the Rho Family of Small GTPases.
Journal: Clinical genetics
Published: February 04, 2025
Complete Blood Count Values Over Time in Young Children During the Dengue Virus Epidemic in the Dominican Republic From 2018 to 2020.
Journal: BioMed research international
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
Expanding the phenotype of neurofibromatosis type 1 microdeletion syndrome.
Journal: American journal of medical genetics. Part C, Seminars in medical genetics
Published: December 12, 2023
KMT2D regulates activation, localization, and integrin expression by T-cells.
Journal: Frontiers in immunology
Published: November 20, 2023
Editorial: Characterizing the neurobehavioral phenotype of mendelian disorders of epigenetic machinery.
Journal: Frontiers in genetics
Published: November 14, 2023
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Journal: Clinical trials (London, England)
Published: September 29, 2023
Genetics in Pediatric Practice.
Journal: Pediatric clinics of North America
Published: September 13, 2023
Last Updated: 09/26/2026