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Nature Communications|May 14, 2025
Inherited deficiency of DIAPH1 identifies a DNA double strand break repair pathway regulated by γ-actinBeth L Woodward, Sudipta Lahiri, Anoop S Chauhan, et al.The Journal of Allergy and Clinical Immunology|November 18, 2023
Abnormal biomarkers predict complex FAS or FADD defects missed by exome sequencingAnne Rensing-Ehl, Myriam Ricarda Lorenz, Marita Führer, et al.American Journal of Human Genetics|January 13, 2026
Molecular genotype-phenotype correlation in ACTB- and ACTG1-related non-muscle actinopathiesNataliya Di Donato, , Andrew Thom, et al.Nature Medicine|February 15, 2024
Long-term and real-world safety and efficacy of retroviral gene therapy for adenosine deaminase deficiencyMaddalena Migliavacca, Federica Barzaghi, Claudia Fossati, et al.American Journal of Medical Genetics. Part A|February 8, 2017
Childhood cancer predisposition syndromes-A concise review and recommendations by the Cancer Predisposition Working Group of the Society for Pediatric Oncology and HematologyTim Ripperger, Stefan S Bielack, Arndt Borkhardt, et al.The Journal of Allergy and Clinical Immunology|June 30, 2023
Activated phosphoinositide 3-kinase δ syndrome: Update from the ESID Registry and comparison with other autoimmune-lymphoproliferative inborn errors of immunityMaria Elena Maccari, Martin Wolkewitz, Charlotte Schwab, et al.Nature|November 8, 2023
Autoantibodies against type I IFNs in humans with alternative NF-κB pathway deficiencyTom Le Voyer, Audrey V Parent, Xian Liu, et al.Pageof 3