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American Journal of Human Genetics|March 19, 2024
Expanding the PRAAS spectrum: De novo mutations of immunoproteasome subunit β-type 10 in six infants with SCID-Omenn syndromeCaspar I van der Made, Simone Kersten, Odelia Chorin, et al.The New England Journal of Medicine|June 10, 2026
Interleukin-10 Autoantibodies and HLA-DRB1*01:03 in Inflammatory Bowel DiseaseNima Gharahdaghi, Pai-Jui Yeh, Lourdes Ceron-Gutierrez, et al.The European Respiratory Journal|June 21, 2022
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasisAmelia Shoemark, Helen Griffin, Gabrielle Wheway, et al.American Journal of Human Genetics|August 2, 2020
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function EffectsAndreea Manole, Stephanie Efthymiou, Emer O'Connor, et al.Pageof 6