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1دورية أكاديميةSNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation
المؤلفون: Marwan Nashabat, Nasrinsadat Nabavizadeh, Hilal Pırıl Saraçoğlu, Burak Sarıbaş, Şahin Avcı, Esra Börklü, Emmanuel Beillard, Elanur Yılmaz, Seyide Ecesu Uygur, Cavit Kerem Kayhan, Luca Bosco, Zeynep Bengi Eren, Katharina Steindl, Manuela Friederike Richter, Guney Bademci, Anita Rauch, Zohreh Fattahi, Maria Lucia Valentino, Anne M. Connolly, Angela Bahr, Laura Viola, Anke Katharina Bergmann, Maria Eugenia Rocha, LeShon Peart, Derly Liseth Castro-Rojas, Eva Bültmann, Suliman Khan, Miriam Liliana Giarrana, Raluca Ioana Teleanu, Joanna Michelle Gonzalez, Antonella Pini, Ines Sophie Schädlich, Katharina Vill, Melanie Brugger, Stephan Zuchner, Andreia Pinto, Sandra Donkervoort, Stephanie Ann Bivona, Anca Riza, Undiagnosed Diseases Network, Ioana Streata, Dieter Gläser, Carolina Baquero-Montoya, Natalia Garcia-Restrepo, Urania Kotzaeridou, Theresa Brunet, Diana Anamaria Epure, Aida Bertoli-Avella, Ariana Kariminejad, Mustafa Tekin, Sandra von Hardenberg, Carsten G. Bönnemann, Georg M. Stettner, Ginevra Zanni, Hülya Kayserili, Zehra Piraye Oflazer, Nathalie Escande-Beillard
المصدر: Nature Communications, Vol 15, Iss 1, Pp 1-19 (2024)
مصطلحات موضوعية: Science
وصف الملف: electronic resource
العلاقة: https://doaj.org/toc/2041-1723Test
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2دورية أكاديميةA progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI‐NET sequencing
المؤلفون: Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker‐Ravi, Burak Sarıbaş, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El‐Khateeb, Rajaa Fathallah, Jean‐Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande‐Beillard, Andreas Mayer, Bruno Reversade
المصدر: EMBO Molecular Medicine, Vol 15, Iss 2, Pp n/a-n/a (2023)
مصطلحات موضوعية: non‐coding variant, Osteogenesis Imperfecta, RNA‐seq, SI‐NET‐seq, TAPT1, Medicine (General), R5-920, Genetics, QH426-470
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Milène Chaptal, Claire Andrejak, Timothée Bonifay, Emmanuel Beillard, Geneviève Guillot, Stéphanie Guyomard-Rabenirina, Magalie Demar, Sabine Trombert-Paolantoni, Veronique Jacomo, Emilie Mosnier, Nicolas Veziris, Felix Djossou, Loïc Epelboin, French Guiana PNTM working group
المصدر: PLoS Neglected Tropical Diseases, Vol 16, Iss 9, p e0010693 (2022)
مصطلحات موضوعية: Arctic medicine. Tropical medicine, RC955-962, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Pauline Thill, Carole Eldin, Laureen Dahuron, Alain Berlioz-Artaud, Magalie Demar, Mathieu Nacher, Emmanuel Beillard, Félix Djossou, Loïc Epelboin
المصدر: PLoS Neglected Tropical Diseases, Vol 16, Iss 5, p e0010349 (2022)
مصطلحات موضوعية: Arctic medicine. Tropical medicine, RC955-962, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Claude Flamand, Christelle Alves Sarmento, Antoine Enfissi, Sarah Bailly, Emmanuel Beillard, Mélanie Gaillet, Céline Michaud, Véronique Servas, Nathalie Clement, Anaïs Perilhou, Thierry Carage, Didier Musso, Jean-François Carod, Stéphanie Eustache, Céline Tourbillon, Elodie Boizon, Samantha James, Félix Djossou, Henrik Salje, Simon Cauchemez, Dominique Rousset
المصدر: PLoS Neglected Tropical Diseases, Vol 15, Iss 11, p e0009945 (2021)
مصطلحات موضوعية: Arctic medicine. Tropical medicine, RC955-962, Public aspects of medicine, RA1-1270
وصف الملف: electronic resource
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6دورية
المؤلفون: Tamburini, Jerome, Mouche, Sarah, Larrue, Clement, Duployez, Nicolas, Bidet, Audrey, Salotti, Auriane, Hirsch, Pierre, Rigolot, Lucie, Carras, Sylvain, Templé, Marie, Favale, Fabrizia, Flandrin-Gresta, Pascale, Le Bris, Yannick, Alary, Anne-Sophie, Mauvieux, Laurent, Tondeur, Sylvie, Delabesse, Eric, Delhommeau, François, Sujobert, Pierre, Kosmider, Olivier, Norman, Abbou, Sara, Addakiri, Louis, Adje Missa, Lucille, Altounian, Chloé, Arfeuille, Amélie, Bachelot, Fanny, Baran-Marszak, Kildie, Barrial, Anne, Barthel, Martine, Becker, Emmanuel, Beillard, Graziella, Bernier, Annaëlle, Beucher, Odile, Blanchet, Pauline, Blateau, Julliane, Bloch, Lara, Boucher, Marie-Laure, Boulland, Anne, Bouvier, Simon, Bouzy, Claire, Bracquemart, Clotilde, Bravetti, Chantal, Brouzes, Patricia, Brugel, Serge, Carillo, Bruno, Cassinat, Hélène, Cave, Aurélie, Caye-Eude, Jean-Michel, Cayuela, Carole, Charlot, Aurélie, Chauveau, Sara, Chikhi, Lionel, Chollet, Jean-Claude, Chomel, Emmanuelle, Clappier, Alexis, Claudel, Pascale, Cornillet Lefebvre, Laurane, Cottin, Marie-Magdelaine, Coude, Vincent, Cussac, Bérangère, Dadone-Montaudie, Frédéric, Davi, Véronique, De Mas, Agathe, Debliquis, Matthieu, Decamp, Sabine, Defasque, Michaël, Degaud, Marlene, Dejean, Eric, Delabesse, Hervé, Delacour, Marie-Hélène, Delfau-Larue, Anne, Desmares, Marion, Divoux, Natacha, Doumbadze, Julie, Dremaux, Bernard, Drenou, Stéphanie, Dulucq, Coraline, Dumont, Manon, Duprat, Valérie, Duranton-Tanneur, Marie-Hélène, Estienne, Pascaline, Etancelin, Lisa, Faucheux, Laurène, Fenwarth, Carole, Fleury, Elise, Fournier, Chloé, Friedrich, Xavier, Fund, Nathalie, Gachard, Jean-Baptiste, Gaillard, Coralie, Giot, Valérie, Goncalves, Nathalie, Grardel, Brigitte, Gubler, Yacine, Haddad, Mehdi, Hage Sleiman, Sandrine, Hayette, Claire, Hirschauer, Sarah, Huet, Carole, Humbert, Antoine, Ittel, Sophie, Kaltenbach, Sébastien, Lachot, Sophy, Laibe, Grégory, Lazarian, Valoris, Le Brun, Christelle, Le Sciellour, Benjamin, Lebecque, Isabelle, Lemaire, Melchior, Le Mene, Christine, Lespinasse, Ludovic, Lhermitte, Laurence, Lode, Damien, Luque Paz, Cyril, Maingourd, Elsa, Maitre, Mansier, Olivier, Alice, Marceau-Renaut, Angelique, Marcon, Mélanie, Martin-Gourier, Christophe, Marzac, Claire, Mauduit, Lucie, Maurice, Audrey, Menard, Jean-Philippe, Merlio, Yannick, Miguet Laurent, Djamia, Mokrane, Nathalie, Monhoven, Marie-Joelle, Mozziconacci, Marc, Muller, Anne, Murati-Zeller, Dina, Naguib, Rajiv, Narayanin, Olivier, Nibourel, Pauline, Noyel, Jennifer, Osman, Cédric, Pastoret, Agathe, Paubel, Anne, Perdrix, Benjamin, Podvin, Benoit, Quilichini, Anna, Raimbault, Thimali, Ranaweera Arachchige, Noémie, Ravalet, Julie, Renard, Aline, Renneville, Florian, Renosi, Bénédicte, Ribourtout, David, Rizzo, Camille, Rottier, Léa, Ryffel, Ivan, Sloma, Brigitte, Soubeyran, Nathalie, Sorel, Marc, Spentchian, Assia, Taleb, Thomas, Tassin, Andrei, Tchirkov, Giulia, Tueur, Valérie, Ugo, Laurent, Vallat, Lauren, Veronese, Patrick, Villarese, Margaux, Wiber, Loria, Zalmaï
المصدر: Blood Advances; December 2023, Vol. 7 Issue: 24 p7576-7580, 5p
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7
المؤلفون: Patrick Tan, P. Mathijs Voorhoeve, Nallasivam Palanisamy, Sun-Young Rha, Kalpana Ramnarayanan, Julian Lee, Emmanuel Beillard, Iain BeeHuat Tan, Nian-Tao Deng, Chia-Huey Ooi, Kakoli Das, Angie Lay-Keng Tan, Hue-Kian Oh
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b868ccbaaee447140b26b1012bbcec81Test
https://doi.org/10.1158/1078-0432.c.6519584.v1Test -
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المؤلفون: Patrick Tan, P. Mathijs Voorhoeve, Nallasivam Palanisamy, Sun-Young Rha, Kalpana Ramnarayanan, Julian Lee, Emmanuel Beillard, Iain BeeHuat Tan, Nian-Tao Deng, Chia-Huey Ooi, Kakoli Das, Angie Lay-Keng Tan, Hue-Kian Oh
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12bb0b94bf1f8bb0dce4baa8d8c0b5a9Test
https://doi.org/10.1158/1078-0432.22442966.v1Test -
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المؤلفون: Arsène Vacherot, Emmanuel Beillard, Catherine Chassagne-Clément, Marie-Charlotte Laude, Pierre Sesques, Laure Lebras, Alexandra Traverse-Glehen, Claire Mauduit, Mauricette Michallet, Stéphane Morisset, Anne-Sophie Michallet, Yann Guillermin
المصدر: Blood. 140:11878-11879
مصطلحات موضوعية: Immunology, Cell Biology, Hematology, Biochemistry
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bbf217b6fe876bc399de042efd235d70Test
https://doi.org/10.1182/blood-2022-169510Test -
10
المؤلفون: Timothée Bonifay, Emmanuel Beillard, Marie Daniel, Vanessa Schiemsky, Evelyn Vierendeels, Magalie Demar, Agathe Pastre, Karim Hamiche, Mathieu Nacher, Loic Epelboin
المصدر: Revista do Instituto de Medicina Tropical de São Paulo, Volume: 64, Article number: e42, Published: 10 JUN 2022
Revista do Instituto de Medicina Tropical de São Paulo; Vol. 64 (2022); e42
Revista do Instituto de Medicina Tropical de São Paulo; v. 64 (2022); e42
Revista do Instituto de Medicina Tropical de São Paulo
Instituto de Medicina Tropical (IMT)
instacron:IMTمصطلحات موضوعية: Incidence, Prisoners, Prison, Humans, Inmates, Q Fever, Q fever, Zoonotic diseases, French Guiana, Retrospective Studies
وصف الملف: text/html; application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34b7aa5f6cdce6051b010684868689a0Test
https://pubmed.ncbi.nlm.nih.gov/35703611Test