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BMC Medical Genetics|May 8, 2015
A patient with polymerase E1 deficiency (POLE1): clinical features and overlap with DNA breakage/instability syndromesIsabelle Thiffault, Carol Saunders, Janda Jenkins, et al.The Laryngoscope|September 21, 2024
Hearing Loss in Children with 22q11.2 Deletion SyndromeJill Arganbright, Terrence Blaine Crowley, Meghan Tracy, et al.The Journal of Allergy and Clinical Immunology|March 16, 2025
IRF2BP2 deficiency: An important form of common variable immunodeficiency with inflammationChioma Udemgba, Bethany Pillay, Samantha Shafer, et al.The Journal of Allergy and Clinical Immunology|October 1, 2019
Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & ImmunologyIvan K Chinn, Alice Y Chan, Karin Chen, et al.Science (New York, N.Y.)|July 11, 2020
HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory diseaseSarah A Cook, William A Comrie, M Cecilia Poli, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 20, 2022
Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomesAna S A Cohen, Emily G Farrow, Ahmed T Abdelmoity, et al.The Journal of Allergy and Clinical Immunology|February 15, 2026
Multicenter international cohort study of HA20 reveals novel genetic architecture and phenotypic evolutionTingyan He, Jun Wang, Manuel Carpio Tumba, et al.Journal of Clinical Immunology|April 5, 2024
COVID-19 Vaccination in Patients with Inborn Errors of Immunity Reduces Hospitalization and Critical Care Needs Related to COVID-19: a USIDNET ReportJohn McDonnell, Kimberley Cousins, M Elizabeth M Younger, et al.Pageof 2