يعرض 1 - 10 نتائج من 63 نتيجة بحث عن '"Dominique Becker"', وقت الاستعلام: 1.04s تنقيح النتائج
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    المساهمون: Génétique et Physiopathologie des Maladies Cérébro-Vasculaires (U1161 / UMR_S 1161), Université Paris Diderot - Paris 7 (UPD7)-Institut National de la Santé et de la Recherche Médicale (INSERM), Universitat Autònoma de Barcelona (UAB), Hôpital Henri Mondor, Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), Institut d'Investigació Biomèdica de Bellvitge [Barcelone] (IDIBELL), CIBER de Enfermedades Raras (CIBERER), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Architecture et réactivité de l'ARN (ARN), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Neurometabolic Diseases Laboratory [Barcelona, Spain], Centre for Biomedical Research on Rare Diseases [Barcelona, Spain] (CIBERER), Hospital Sant Joan de Déu [Barcelona], Institució Catalana de Recerca i Estudis Avançats (ICREA), Institut Català de la Salut, [Verdura E, Schlüter A, Launay N, Ruiz M] Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L’Hospitalet de Llobregat, 08908, Barcelona, Catalonia, Spain. Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain. [Senger B] Université de Strasbourg 1, Strasbourg, France. [Raspall-Chaure M] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Macaya A] Grup de Recerca en Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Servei de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Institut de Neurociències, Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

    المصدر: Journal of Medical Genetics
    Journal of Medical Genetics, BMJ Publishing Group, 2022, pp.jmedgenet-2022-108529. ⟨10.1136/jmg-2022-108529⟩
    r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
    instname
    Scientia

    وصف الملف: application/pdf

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    دورية أكاديمية
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    المؤلفون: Cheryl Cytrynbaum, Francesca Mattioli, Maria J. Guillen Sacoto, Federico Santoni, Rosanna Weksberg, Amina Nasar, Annemarie Fock, Henry Houlden, Shaikh Riazuddin, Tobias B. Haack, Roisin Sullivan, Mona Grimmel, Helen Griffin, Stylianos E. Antonarakis, Nuzhat Rana, Andreea Manole, Marisa I. Mendes, Ayca Dilruba Aslanger, Justyna Iwaszkiewicz, Julia Mohr, Rolph Pfundt, Muhammed Ilyas, Tina Duelund Hjortshøj, Kshitij Mankad, Muhammad Ansar, Katherine M. Christensen, Sonal Desai, Aida Telegrafi, Faisal Zafar, Helena Gásdal Karstensen, Dagan Jenkins, Yue Si, John F. Mantovani, Alice Goldenberg, Sylvain Debard, Muhammad T. Sarwar, Jagdeep S. Walia, Stephanie Efthymiou, Rita Horvath, Vincenzo Salpietro, Reza Maroofian, Jawad Ahmed, Joost Raaphorst, Lindsay B. Henderson, Benyekhlef Kara, Lauren Badalato, Adnan Y. Manzur, Desirée E.C. Smith, Ruben Portier, Marwan Shinawi, Marisa V. Andrews, Gajja S. Salomons, John B. Vincent, Amélie Piton, Felix Distelmaier, Emmanuelle Ranza, Jean-Louis Mandel, Sohail A. Paracha, Marybeth Hummel, Jürg Bähler, Dustin Baldridge, Muhammad A. Usmani, Lu Wang, Maria Rodriguez Lopez, Frédéric Fischer, Annette Seibt, Servi J. C. Stevens, Matthew J. Jennings, Majdi Kara, Amelia Kirby, Hubert Dominique Becker, Kristin W. Barañano, Christopher S. Francklyn, Saima Riazuddin, Rasim Ozgur Rosti, Emer O'Connor, Yalda Jamshidi, Barbara Oehl-Jaschkowitz, Ricardo Harripaul, Anne Marie Jelsig, Anna Sarkozy, Indran Davagnanam, Zubair M. Ahmed, David A. Koolen, Joseph G. Gleeson, Heinz Gabriel, Alkyoni Athanasiou-Fragkouli, Muhammad Ayub, Alejandro Horga, Conny van Ravenwaaij, Bruno Senger, Ingrid M. Wentzensen

    المساهمون: Clinical Cognitive Neuropsychiatry Research Program (CCNP), Neurology, Laboratory Genetic Metabolic Diseases, ANS - Cellular & Molecular Mechanisms, AGEM - Amsterdam Gastroenterology Endocrinology Metabolism, ASLANGER, Ayça Dilruba, Université de Strasbourg (UNISTRA), MUMC+: DA KG Lab Centraal Lab (9), RS: FHML non-thematic output, Laboratory Medicine, AGEM - Endocrinology, metabolism and nutrition, AGEM - Inborn errors of metabolism, Amsterdam Neuroscience - Cellular & Molecular Mechanisms, Amsterdam Gastroenterology Endocrinology Metabolism, Amsterdam Reproduction & Development (AR&D)

    المصدر: American Journal of Human Genetics, 107, 2, pp. 311-324
    American Journal of Human Genetics, 107(2), 311-324. CELL PRESS
    American journal of human genetics, 107(2), 311-324. Cell Press
    American Journal of Human Genetics, 107, 311-324
    American Journal of Human Genetics
    American Journal of Human Genetics, Elsevier (Cell Press), 2020, 107 (2), pp.311-324. ⟨10.1016/j.ajhg.2020.06.016⟩
    American Journal of Human Genetics, 107(2), 311-324. Cell Press
    Manole, A, Efthymiou, S, O'Connor, E, Mendes, M I, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, M R, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, C S, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, L B, Kara, B, Aslanger, A D, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, K M, Wang, L, Rosti, R O, Paracha, S A, Sarwar, M T, Jenkins, D, Ahmed, J, Santoni, F A, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, I M, Guillen Sacoto, M J, Si, Y, Telegrafi, A, Andrews, M V, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, A J M, Stevens, S J C, Bähler, J, Nasar, A, Mantovani, J F, Manzur, A, Sarkozy, A, Smith, D E C, Salomons, G S, Ahmed, Z M, Riazuddin, S, Riazuddin, S, Usmani, M A, Seibt, A, Ansar, M, Antonarakis, S E, Vincent, J B, Ayub, M, Grimmel, M, Jelsig, A M, Hjortshøj, T D, Karstensen, H G, Hummel, M, Haack, T B, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, J G, Becker, H, Mandel, J L, Koolen, D A, Houlden, H & SYNAPS Study Group 2020, ' De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects ', American journal of human genetics, vol. 107, no. 2, pp. 311-324 . https://doi.org/10.1016/j.ajhg.2020.06.016
    Am J Hum Genet

    وصف الملف: application/pdf

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    المساهمون: Génétique moléculaire, génomique, microbiologie (GMGM), Université Louis Pasteur - Strasbourg I-Centre National de la Recherche Scientifique (CNRS), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)

    المصدر: The Enzymes: Biology of Aminoacyl-tRNA Synthetases
    The Enzymes
    The Enzymes, 48, 2020, Biology of Aminoacyl-tRNA Synthetases, ⟨10.1016/bs.enz.2020.04.003⟩

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    المساهمون: UCL - SSS/IREC/NEFR - Pôle de Néphrologie, UCL - SSS/IREC/MORF - Pôle de Morphologie, UCL - SSS/IREC/RUMA - Pôle de Pathologies rhumatismales, UCL - (SLuc) Service de néphrologie, UCL - (SLuc) Service d'anatomie pathologique, UCL - (SLuc) Service de soins intensifs, UCL - (SLuc) Service de rhumatologie, CHU Tenon [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Cliniques Universitaires Saint-Luc [Bruxelles], Lille économie management - UMR 9221 (LEM), Université d'Artois (UA)-Université catholique de Lille (UCL)-Université de Lille-Centre National de la Recherche Scientifique (CNRS), Université Catholique de Louvain = Catholic University of Louvain (UCL), Des Maladies Rénales Rares aux Maladies Fréquentes, Remodelage et Réparation, Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU), Université Pierre et Marie Curie - Paris 6 (UPMC)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut de Recherche Expérimentale et Clinique (IREC), ANR-17-CE17-0012,MNaims,Dissection moléculaire de la glomérulonéphrite extramembraneuse liée à PLA2R1: vers l'identification de nouveaux biomarqueurs cliniques(2017), UCL - SSS/IREC - Institut de recherche expérimentale et clinique

    المصدر: American journal of kidney diseases, Vol. 76, no. 5, p. 624-635 (2020)
    American Journal of Kidney Diseases
    American Journal of Kidney Diseases, 2020, 76 (5), pp.624-635. ⟨10.1053/j.ajkd.2020.04.013⟩
    American journal of kidney diseases : the official journal of the National Kidney Foundation, (2020)