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1دورية أكاديمية
المؤلفون: Antoine Pegat, Nathalie Streichenberger, Nicolas Lacoste, Marc Hermier, Rita Menassa, Laurent Coudert, Julian Theuriet, Roseline Froissart, Sophie Terrone, Francoise Bouhour, Laurence Michel-Calemard, Laurent Schaeffer, Arnaud Jacquier
المصدر: Genes, Vol 13, Iss 12, p 2245 (2022)
مصطلحات موضوعية: XMEA, VMA21, intronic mutation, intron retention, autophagy, vacuolar myopathy, Genetics, QH426-470
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Sylvie Gerber, Lola Lessard, Cécile Rouzier, Samira Ait‐el‐Mkadem Saadi, Roxana Ameli, Stéphane Thobois, Lucie Abouaf, Françoise Bouhour, Josseline Kaplan, Audrey Putoux, Antoine Pegat, Jean‐Michel Rozet
المصدر: EMBO Molecular Medicine, Vol 15, Iss 8, Pp n/a-n/a (2023)
مصطلحات موضوعية: Medicine (General), R5-920, Genetics, QH426-470
العلاقة: https://doi.org/10.15252/emmm.202216090Test; https://doaj.org/toc/1757-4676Test; https://doaj.org/toc/1757-4684Test; https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7Test
الإتاحة: https://doi.org/10.15252/emmm.202216090Test
https://doaj.org/article/0a7e7570d3ec48889ab6d74d61b6f5a7Test -
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المؤلفون: Brandon F. Meaney, Raphael Schiffmann, Christine R. Kaneski, Odile Boespflug-Tanguy, Anne Fogli, Diana Rodriguez, Pierre Labauge, Francoise Bouhour, Eleonore Eymard-Pierre, Susan Zeesman
المصدر: The American Journal of Human Genetics. (6):1544-1550
مصطلحات موضوعية: medicine.medical_specialty, Ataxia, Eukaryotic Initiation Factor-2, Molecular Sequence Data, Primary Ovarian Insufficiency, Biology, Bioinformatics, medicine.disease_cause, Severity of Illness Index, Pathogenesis, Leukoencephalopathy with vanishing white matter, Report, Internal medicine, Genetics, medicine, Humans, Initiation factor, Genetics(clinical), Age of Onset, Myelin Sheath, Genetics (clinical), Mutation, Leukodystrophy, medicine.disease, Radiography, Endocrinology, eIF2B, biology.protein, Female, Age of onset, medicine.symptom
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4630d09953bd7a08cc062a991e723361Test