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Journal of Neuromuscular Diseases|March 29, 2026
Expanded clinical and genetic characterization of autosomal recessive HMGCR-related muscular dystrophyStephany El-Hayek, Aboulfazl Rad, Sahar Sedighzadeh, et al.Journal of Clinical Immunology|March 28, 2025
DOCK2 Deficiency and GATA2 Haploinsufficiency Can Underlie Critical Coronavirus Disease 2019 (COVID-19) PneumoniaSajjad Biglari, Leila Youssefian, Mohammad Amin Tabatabaiefar, et al.The Journal of Experimental Medicine|August 9, 2020
NCKAP1L defects lead to a novel syndrome combining immunodeficiency, lymphoproliferation, and hyperinflammationCarla Noemi Castro, Michelle Rosenzwajg, Raphael Carapito, et al.The Journal of Experimental Medicine|July 15, 2021
Impaired respiratory burst contributes to infections in PKCδ-deficient patientsAnna-Lena Neehus, Kunihiko Moriya, Alejandro Nieto-Patlán, et al.The Journal of Experimental Medicine|June 7, 2022
Respiratory viral infections in otherwise healthy humans with inherited IRF7 deficiencyTessa Mollie Campbell, Zhiyong Liu, Qian Zhang, et al.The Journal of Experimental Medicine|May 9, 2024
Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defectTamara Kögl, Hsin-Fang Chang, Julian Staniek, et al.Journal of Human Immunity|November 26, 2025
Novel genotypes, phenotypes, and triggers in humans with OTULIN haploinsufficiencyTristan J van der Linden, Rob J W Arts, Catherine M Biggs, et al.Blood Cells, Molecules & Diseases|June 27, 2021
Hematologically important mutations: X-linked chronic granulomatous disease (fourth update)Dirk Roos, Karin van Leeuwen, Amy P Hsu, et al.Blood Cells, Molecules & Diseases|September 21, 2021
Hematologically important mutations: The autosomal forms of chronic granulomatous disease (third update)Dirk Roos, Karin van Leeuwen, Amy P Hsu, et al.The Journal of Experimental Medicine|July 16, 2026
Familial pulmonary alveolar proteinosis and type I interferonopathy by mutation of STAT2 (TIMS2)Conor Gruber, Meredith Ramba, Bineeta Debnath, et al.Pageof 9