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Arthritis & Rheumatology (Hoboken, N.J.)|December 14, 2020
From Diagnosis to Prognosis: Revisiting the Meaning of Muscle ISG15 Overexpression in Juvenile Inflammatory MyopathiesCyrielle Hou, Chloé Durrleman, Baptiste Periou, et al.
Neuropediatrics|November 29, 2019
Biallelic Mutations in MTPAP Associated with a Lethal EncephalopathyLien Van Eyck, Francesco Bruni, Anne Ronan, et al.
Pediatric Research|June 11, 2026
Type I interferon signature does not correlate with disease activity in Blau syndromeBenjamin Fournier, Héloïse Reumaux, Isabelle Melki, et al.
American Journal of Medical Genetics. Part A|November 18, 2008
Band-like intracranial calcification with simplified gyration and polymicrogyria: a distinct "pseudo-TORCH" phenotypeT A Briggs, N I Wolf, S D'Arrigo, et al.
Journal of Clinical Immunology|February 8, 2023
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2Gaofeng Zhu, Mihaly Badonyi, Lina Franklin, et al.
Neuropediatrics|September 23, 2014
Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegiaYanick J Crow, Maha S Zaki, Mohamed S Abdel-Hamid, et al.
Annals of the Rheumatic Diseases|June 8, 2014
Aicardi-Goutières syndrome harbours abundant systemic and brain-reactive autoantibodiesEloy Cuadrado, Adeline Vanderver, Kristy J Brown, et al.
Arthritis & Rheumatology (Hoboken, N.J.)|July 9, 2016
Tartrate-Resistant Acid Phosphatase Deficiency in the Predisposition to Systemic Lupus ErythematosusJie An, Tracy A Briggs, Audrey Dumax-Vorzet, et al.
European Journal of Immunology|May 26, 2025
Mutations in RNU4ATAC Are Associated With Chilblain-Like Lesions and Enhanced Type I Interferon SignallingNic Robertson, Aakash Joshi, Francesca Ritchie, et al.
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