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1دورية أكاديمية
المؤلفون: V. Alesi, S. Genovese, M. C. Roberti, E. Sallicandro, S. Di Tommaso, S. Loddo, V. Orlando, D. Pompili, C. Calacci, V. Mei, E. Pisaneschi, M. V. Faggiano, A. Morgia, C. Mammì, G. Astrea, R. Battini, M. Priolo, M. L. Dentici, R. Milone, A. Novelli
المصدر: Human Genomics, Vol 18, Iss 1, Pp 1-14 (2024)
مصطلحات موضوعية: SETBP1, Optical genome mapping, OGM, Complex rearrangement, Translocation, RASopathy, Medicine, Genetics, QH426-470
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/1479-7364Test
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2دورية أكاديمية
المؤلفون: Misic, J, Milenkovic, D, Al-Behadili, A, Xie, X, Jiang, M, Jiang, S, Filograna, R, Koolmeister, C, Siira, SJ, Jenninger, L, Filipovska, A, Clausen, AR, Caporali, L, Valentino, ML, La Morgia, C, Carelli, V, Nicholls, TJ, Wredenberg, A, Falkenberg, M, Larsson, NG
المصدر: Nucleic acids research. 50(15):8749-8766
مصطلحات موضوعية: Medicin och hälsovetenskap
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3دورية أكاديمية
المؤلفون: Stenton, SL, Tesarova, M, Sheremet, NL, Catarino, C, Carelli, V, Ciara, E, Curry, K, Engvall, M, Fleming, LR, Freisinger, P, Iwanicka-Pronicka, K, Jurkiewicz, E, Klopstock, T, Koenig, MK, Kolarova, H, Kousal, B, Krylova, T, La Morgia, C, Noskova, L, Piekutowska-Abramczuk, D, Russo, SN, Stranecky, V, Tothova, I, Traisk, F, Prokisch, H
المصدر: Brain : a journal of neurology. 145(5):1624-1631
مصطلحات موضوعية: Medicin och hälsovetenskap
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4دورية أكاديمية
المؤلفون: Bacalini, MG, Palombo, F, Garagnani, P, Giuliani, C, Fiorini, C, Caporali, L, Maserati, MS, Capellari, S, Romagnoli, M, De Fanti, S, Benussi, L, Binetti, G, Ghidoni, R, Galimberti, D, Scarpini, E, Arcaro, M, Bonanni, E, Siciliano, G, Maestri, M, Guarnieri, B, Martucci, M, Monti, D, Carelli, V, Franceschi, C, La Morgia, C, Santoro, A
المصدر: GeroScience. 44(2):881-896
مصطلحات موضوعية: Medicin och hälsovetenskap
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5تقرير
المؤلفون: Imperati, Vincenzo, La Morgia, Massimo, Mei, Alessandro, Mongardini, Alberto Maria, Sassi, Francesco
مصطلحات موضوعية: Computer Science - Computers and Society
الوصول الحر: http://arxiv.org/abs/2310.15977Test
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6
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7تقرير
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8دورية أكاديمية
المؤلفون: Newman, Nancy J, Yu-Wai-Man, Patrick, Subramanian, Prem S, Moster, Mark L, Wang, An-Guor, Donahue, Sean P, Leroy, Bart P, Carelli, Valerio, Biousse, Valerie, Vignal-Clermont, Catherine, Sergott, Robert C, Sadun, Alfredo A, Rebolleda Fernández, Gema, Chwalisz, Bart K, Banik, Rudrani, Bazin, Fabienne, Roux, Michel, Cox, Eric D, Taiel, Magali, Sahel, José-Alain, Giulia, Amore, Shweta, Anand, Rudrani, Banik, Piero, Barboni, Valérie, Biousse, Hayley, Boston, Asma, Burale, Michele, Carbonelli, Valerio, Carelli, Celia, Chen, Hui-Chen, Cheng, Steve, Cho, Manuela, Contin, Pietro, D’Agati, DeBusk, Adam A, Julie, De Zaeytijd, Jannah, Dobbs, Lindreth, DuBois, Simona, Esposti, Alcides, Fernandes Filho, Elizabeth, Fortin, Sapna, Gangaputra, Deborah, Gibbs, François, Girmens Jean, Rabih, Hage, Haller, Julia A, Gad, Heilweil, George Baker, Hubbard III, Jeong-Min, Hwang, Laia, Jaumendreu Urquijo, Neringa, Jurkute, Rustum, Karanjia, Wahiba, Khemliche, La Chiara, Morgia, Maria, Massini, Marc, Mathias, Memon, Muhammad A, Susan, Mohamed, Muñoz Negrete, Francisco J, Ghazala, O’Keefe, Shriji, Patel, Paula, Pecen, Peragallo, Jason H, Lise, Plaine, Mary, Preston, Gema, Rebolleda Fernández, Martina, Romagnoli, José-Alain, Sahel, Melissa, SantaMaria, Chuanbin, Sun, Katy, Tai, Heather, Tollis, Irena, Tsui, Tucker, William R, Catherine, Vignal-Clermont, An-Guor, Wang, Saige, Wilkins, Patrick, Yu-Wai-Man
المصدر: Brain. 146(4)
مصطلحات موضوعية: Biomedical and Clinical Sciences, Ophthalmology and Optometry, Clinical Research, Genetics, Neurosciences, Clinical Trials and Supportive Activities, Eye Disease and Disorders of Vision, 6.1 Pharmaceuticals, Evaluation of treatments and therapeutic interventions, Eye, Humans, DNA, Mitochondrial, Genetic Therapy, Inflammation, Mutation, Optic Atrophy, Hereditary, Leber, LHON REFLECT Study Group, NADH dehydrogenase 4, leber hereditary optic neuropathy, lenadogene nolparvovec, mitochondrial DNA, recombinant adeno-associated virus vector 2, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery, Biomedical and clinical sciences, Health sciences, Psychology
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/7m28c7n9Test
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9دورية أكاديمية
المؤلفون: Carelli, Valerio, Newman, Nancy, Yu-Wai-Man, Patrick, Biousse, Valerie, Moster, Mark, Subramanian, Prem, Vignal-Clermont, Catherine, Wang, An-Guor, Donahue, Sean, Leroy, Bart, Sergott, Robert, Klopstock, Thomas, Sadun, Alfredo, Rebolleda Fernández, Gema, Chwalisz, Bart, Banik, Rudrani, Girmens, Jean, La Morgia, Chiara, DeBusk, Adam, Jurkute, Neringa, Priglinger, Claudia, Karanjia, Rustum, Josse, Constant, Salzmann, Julie, Montestruc, François, Roux, Michel, Taiel, Magali, Sahel, José-Alain
المصدر: Ophthalmology and Therapy. 12(1)
مصطلحات موضوعية: Gene therapy, LHON, Leber hereditary optic neuropathy, MT-ND4, Natural history, Visual acuity
وصف الملف: application/pdf
الوصول الحر: https://escholarship.org/uc/item/9mt7w3g2Test
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10تقرير
مصطلحات موضوعية: Computer Science - Computers and Society
الوصول الحر: http://arxiv.org/abs/2206.08202Test