Showing 1 - 3 results of 3 for search '"Aicardi-Goutiéres Syndrome"', query time: 0.03s Refine Results
  1. 1
    A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review

    A Case Report of Aicardi-Goutières Syndrome Type 7 Caused by IFIH1 Gene Mutation and a Literature Review by ZHAO Min, SHU Zhou, HAN Tongxin, FU Yanhua, GAO Tianji, MAO Huawei

    Published 2024-10-01
    Subjects: “…aicardi-goutières syndrome…”
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  2. 2
    Nephrological problems in a child with Aicardi-Goutières syndrome

    Nephrological problems in a child with Aicardi-Goutières syndrome by Małgorzata Piejak, Zuzanna Hus, Adam Bujanowicz, Piotr Skrzypczyk, Joanna Samotyjek, Beata Jurkiewicz, Hanna Szymanik-Grzelak, Mariusz I. Furmanek, Małgorzata Pańczyk-Tomaszewska

    Published 2024-12-01
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  3. 3
    Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

    Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopa... by Sorina Boiu, Nikolaos Paschalidis, George Sentis, Theodora Manolakou, Andrianos Nezos, Manolis Gialitakis, Maria Grigoriou, Erato Atsali, Melpomeni Giorgi, Argirios Ntinopoulos, Clio Mavragani, Periklis Makrythanasis, Dimitrios T. Boumpas, Aggelos Banos

    Published 2025-01-01
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