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1
المؤلفون: R. Barrois, C. Barnerias, E. Deladrière, V. Leloup-Germa, B. Tervil, F. Audic, C. Boulay, C. Cances, P. Cintas, J.B. Davion, C. Espil-Taris, V. Manel, Y. Pereon, J. Piarroux, S. Quijano Roy, C. Vuillerot, U. Walther-Louvier, I. Desguerre, C. Gitiaux
المصدر: Neuromuscular Disorders. 33:309-314
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::1bdd22b75982e23a03e3f02d9bf7bd80Test
https://doi.org/10.1016/j.nmd.2023.02.004Test -
2دورية أكاديمية
المؤلفون: Sukhleen Kour, Deepa Rajan, Tyler R. Fortuna, Eric N. Anderson, Caroline Ward, Youngha Lee, Sang Moon Lee, Yong Beom Shin, Jong Hee Chae, Murim Choi, Karine Siquier, Vincent Cantagrel, Jeanne Amiel, Elliot S. Stolerman, Sarah Barnett, Margot A. Cousin, Diana Castro, Kimberly S. McDonald, Brian Kirmse, Andrea H. Németh, Dhivyaa Rajasundaram, A. Micheil Innes, Danielle C. Lynch, Patrick Frosk, Abigail Collins, Melissa Gibbons, Michele Yang, I. Desguerre, Nathalie Boddaert, Cyril Gitiaux, Siri Lynne Rydning, Kaja Kristine Selmer, Roser Urreizti, A. García Oguiza, Andrés Nascimento Osorio, Edgard Verdura, Aurora Pujol, Hannah McCurry, John E. Landers, Sameer Agnihotri, Elena Corina Andriescu, Shade B. Moody, Chanika Phornphutkul, María J. Guillen Sacoto, Amber Begtrup, Henry Houlden, Janbernd Kirschner, David Schorling, Sabine Rudnik‐Schöneborn, Tim M. Strom
مصطلحات موضوعية: Regulation of RNA Processing and Function, Molecular Biology, Biochemistry, Genetics and Molecular Biology, Life Sciences, Ribosome Structure and Translation Mechanisms, Gene Therapy for Spinal Muscular Atrophy, Genetics, FOS Biological sciences, Medicine, Health Sciences, Survival Motor Neuron Protein, snRNP, Biology, Hypotonia, Ribonucleoprotein, Phenotype, Mutation, RNA-binding protein, Ataxia, Neurodevelopmental disorder, RNA splicing, Cell biology, Gene, Neuroscience, RNA
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3
المؤلفون: N.C. Voermans, M. Vriens-Munoz Bravo, G.W. Padberg, P. Laforêt, N. van Alfen, S. Attarian, U.A. Badrising, E. Bugiardini, P. Camano González, R.Y. Carlier, I. Desguerre, J. Diaz-Manera, J. Dumonceaux, B.G. van Engelen, T. Evangelista, S. Khosla, A. López de Munain, S.M. van der Maarel, A. Mejat, M. Monforte, F. Montagnese, K. Mul, P. Oflazer, B. Porter, S. Quijano-Roy, E. Ricci, S. Sacconi, V.A. Sansone, B. Schoser, J. Statland, E. Stumpe, G. Tasca, R. Tawil, C. Turner, J. Vissing
المصدر: Neuromuscular Disorders, 31, 907-918
Neuromuscular Disorders, 31, 9, pp. 907-918مصطلحات موضوعية: Gerontology, Neurology, business.industry, Pediatrics, Perinatology and Child Health, Medicine, Neurology (clinical), Disorders of movement Donders Center for Medical Neuroscience [Radboudumc 3], business, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf1c5a1ec31a3584b8c54220e6014cecTest
https://doi.org/10.1016/j.nmd.2021.07.013Test -
4
المؤلفون: A.-E. Millischer, D. Grevent, P. Sonigo, N. Bahi-Buisson, I. Desguerre, H. Mahallati, J.-P. Bault, T. Quibel, S. Couderc, M.-L. Moutard, E. Julien, V. Dangouloff, B. Bessieres, V. Malan, T. Attie, L.-J. Salomon, N. Boddaert
المصدر: AJNR Am J Neuroradiol
مصطلحات موضوعية: Fetus, Feasibility Studies, Humans, Radiology, Nuclear Medicine and imaging, Neurology (clinical), Agenesis of Corpus Callosum, Pediatrics, Corpus Callosum, Retrospective Studies
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::110fff0f61cdf43911ba78c3f347b89bTest
https://europepmc.org/articles/PMC8757544Test/ -
5
المؤلفون: L. Servais, K. Benguerba, D. De Vivo, J. Kirschner, F. Muntoni, C. Proud, E. Tizzano, S. Quijano-Roy, I. Desguerre, K. Saito, D. Raju, N. LaMarca, R. Sun, F. Anderson, E. Faulkner, R. Finkel
المصدر: Neuromuscular Disorders. 32:S87
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::dcfb17c0c6f8493204db4967a4d82c61Test
https://doi.org/10.1016/j.nmd.2022.07.189Test -
6
المؤلفون: F. Muntoni, F. Buccella, I. Desguerre, J. Kirschner, A. Nascimento Osorio, M. Tulinius, S. Johnson, C. Werner, J. Jiang, J. Li, J. Jia, P. Trifillis, E. Mercuri
المصدر: Neuromuscular Disorders. 32:S51
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::8e70cadaf25cf79de8f6f7b4989dbe17Test
https://doi.org/10.1016/j.nmd.2022.07.042Test -
7
المؤلفون: M. Tulinius, F. Buccella, I. Desguerre, J. Kirschner, E. Mercuri, F. Muntoni, A. Nascimento Osorio, L. Morgenroth, H. Gordish-Dressman, S. Johnson, C. Werner, J. Jiang, J. Li, J. Jia, P. Trifillis, C. McDonald
المصدر: Neuromuscular Disorders. 32:S52
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::3ce2e1697ead2b0e091574db0d8d1b9eTest
https://doi.org/10.1016/j.nmd.2022.07.046Test -
8
المؤلفون: E. Mercuri, F. Muntoni, F. Buccella, I. Desguerre, J. Kirschner, A. Nascimento Osorio, M. Tulinius, L. Morgenroth, H. Gordish-Dressman, S. Johnson, C. Werner, J. Jiang, J. Li, J. Jia, P. Trifillis, C. McDonald
المصدر: Neuromuscular Disorders. 32:S52
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::720f07039bc52f01021a5cd4dbd519b6Test
https://doi.org/10.1016/j.nmd.2022.07.045Test -
9
المؤلفون: L. Servais, J. Day, D. De Vivo, E. Mercuri, F. Muntoni, P. Shieh, E. Tizzano, I. Desguerre, K. Saito, M. Menier, N. LaMarca, F. Anderson, O. Dabbous, R. Finkel
المصدر: Neuromuscular Disorders. 31:S138-S139
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e9b4aeb1040b542d8287f7f276532bfeTest
https://doi.org/10.1016/j.nmd.2021.07.316Test -
10
المؤلفون: F. Muntoni, F. Buccella, I. Desguerre, J. Kirschner, E. Mercuri, A. Nascimento Osorio, M. Tulinius, S. Johnson, C. Werner, A. Kristensen, J. Jiang, J. Li, P. Trifillis, C. Santos
المصدر: Neuromuscular Disorders. 31:S91-S92
مصطلحات موضوعية: Neurology, Pediatrics, Perinatology and Child Health, Neurology (clinical), Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4e75eaf85b04563cb43f8b8f6862ac5fTest
https://doi.org/10.1016/j.nmd.2021.07.166Test