Hasil Pencarian - Jean‐Pierre deVillartay
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Impaired replication stress response in cells from immunodeficiency patients carrying Cernunnos/XLF mutations. oleh Michal Schwartz, Yifat S Oren, Assaf C Bester, Ayelet Rahat, Ruthy Sfez, Shlomo Yitzchaik, Jean-Pierre de Villartay, Batsheva Kerem
Diterbitkan 2009-01-01Dapatkan teks lengkap
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RAG2 and XLF/Cernunnos interplay reveals a novel role for the RAG complex in DNA repair oleh Chloé Lescale, Vincent Abramowski, Marie Bedora-Faure, Valentine Murigneux, Gabriella Vera, David B. Roth, Patrick Revy, Jean-Pierre de Villartay, Ludovic Deriano
Diterbitkan 2016-02-01Dapatkan teks lengkap
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An XRCC4 mutant mouse, a model for human X4 syndrome, reveals interplays with Xlf, PAXX, and ATM in lymphoid development oleh Benoit Roch, Vincent Abramowski, Olivier Etienne, Stefania Musilli, Pierre David, Jean-Baptiste Charbonnier, Isabelle Callebaut, François D Boussin, Jean-Pierre de Villartay
Diterbitkan 2021-09-01Dapatkan teks lengkap
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Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways oleh Evgeniya Petrova, Jesús María López-Gay, Matthias Fahrner, Florent Leturcq, Jean-Pierre de Villartay, Claire Barbieux, Patrick Gonschorek, Lam C. Tsoi, Johann E. Gudjonsson, Oliver Schilling, Alain Hovnanian
Diterbitkan 2024-02-01Dapatkan teks lengkap
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Indispensable epigenetic control of thymic epithelial cell development and function by polycomb repressive complex 2 oleh Thomas Barthlott, Adam E. Handel, Hong Ying Teh, Rushika C. Wirasinha, Katrin Hafen, Saulius Žuklys, Benoit Roch, Stuart H. Orkin, Jean-Pierre de Villartay, Stephen R. Daley, Georg A. Holländer
Diterbitkan 2021-06-01Dapatkan teks lengkap
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Biosafety Studies of a Clinically Applicable Lentiviral Vector for the Gene Therapy of Artemis-SCID oleh Sabine Charrier, Chantal Lagresle-Peyrou, Valentina Poletti, Michael Rothe, Grégory Cédrone, Bernard Gjata, Fulvio Mavilio, Alain Fischer, Axel Schambach, Jean-Pierre de Villartay, Marina Cavazzana, Salima Hacein-Bey-Abina, Anne Galy
Diterbitkan 2019-12-01Dapatkan teks lengkap
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Diagnosis of Fanconi anemia in patients with bone marrow failure oleh Fernando O. Pinto, Thierry Leblanc, Delphine Chamousset, Gwenaelle Le Roux, Benoit Brethon, Bruno Cassinat, Jérôme Larghero, Jean-Pierre de Villartay, Dominique Stoppa-Lyonnet, André Baruchel, Gérard Socié, Eliane Gluckman, Jean Soulier
Diterbitkan 2009-04-01Dapatkan teks lengkap
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Impaired telomere integrity and rRNA biogenesis in PARN‐deficient patients and knock‐out models oleh Maname Benyelles, Harikleia Episkopou, Marie‐Françoise O'Donohue, Laëtitia Kermasson, Pierre Frange, Florian Poulain, Fatma Burcu Belen, Meltem Polat, Christine Bole‐Feysot, Francina Langa‐Vives, Pierre‐Emmanuel Gleizes, Jean‐Pierre deVillartay, Isabelle Callebaut, Anabelle Decottignies, Patrick Revy
Diterbitkan 2019-07-01Dapatkan teks lengkap
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Extended clinical and genetic spectrum associated with biallelic RTEL1 mutations oleh Fabien Touzot, Laetitia Kermasson, Laurent Jullien, Despina Moshous, Christelle Ménard, Aydan Ikincioğullari, Figen Doğu, Sinan Sari, Vannina Giacobbi-Milet, Amos Etzioni, Jean Soulier, Arturo Londono-Vallejo, Alain Fischer, Isabelle Callebaut, Jean-Pierre de Villartay, Thierry Leblanc, Caroline Kannengiesser, Patrick Revy
Diterbitkan 2016-11-01Dapatkan teks lengkap
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XLF/Cernunnos loss impairs mouse brain development by altering symmetric proliferative divisions of neural progenitors oleh Amandine Bery, Olivier Etienne, Laura Mouton, Sofiane Mokrani, Christine Granotier-Beckers, Laurent R. Gauthier, Justyne Feat-Vetel, Thierry Kortulewski, Elodie A. Pérès, Chantal Desmaze, Philippe Lestaveal, Vilma Barroca, Antony Laugeray, Fawzi Boumezbeur, Vincent Abramovski, Stéphane Mortaud, Arnaud Menuet, Denis Le Bihan, Jean-Pierre de Villartay, François D. Boussin
Diterbitkan 2023-04-01Dapatkan teks lengkap
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Base-editing-mediated dissection of a γ-globin cis-regulatory element for the therapeutic reactivation of fetal hemoglobin expression oleh Panagiotis Antoniou, Giulia Hardouin, Pierre Martinucci, Giacomo Frati, Tristan Felix, Anne Chalumeau, Letizia Fontana, Jeanne Martin, Cecile Masson, Megane Brusson, Giulia Maule, Marion Rosello, Carine Giovannangeli, Vincent Abramowski, Jean-Pierre de Villartay, Jean-Paul Concordet, Filippo Del Bene, Wassim El Nemer, Mario Amendola, Marina Cavazzana, Anna Cereseto, Oriana Romano, Annarita Miccio
Diterbitkan 2022-11-01Dapatkan teks lengkap
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Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling. oleh Rajesh Jayachandran, Xiaolong Liu, Somdeb Bosedasgupta, Philipp Müller, Chun-Lei Zhang, Despina Moshous, Vera Studer, Jacques Schneider, Christel Genoud, Catherine Fossoud, Frédéric Gambino, Malik Khelfaoui, Christian Müller, Deborah Bartholdi, Helene Rossez, Michael Stiess, Xander Houbaert, Rolf Jaussi, Daniel Frey, Richard A Kammerer, Xavier Deupi, Jean-Pierre de Villartay, Andreas Lüthi, Yann Humeau, Jean Pieters
Diterbitkan 2014-03-01Dapatkan teks lengkap
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Publisher Correction: Somatic genetic rescue of a germline ribosome assembly defect oleh Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Diterbitkan 2022-06-01Dapatkan teks lengkap
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Somatic genetic rescue of a germline ribosome assembly defect oleh Shengjiang Tan, Laëtitia Kermasson, Christine Hilcenko, Vasileios Kargas, David Traynor, Ahmed Z. Boukerrou, Norberto Escudero-Urquijo, Alexandre Faille, Alexis Bertrand, Maxim Rossmann, Beatriz Goyenechea, Li Jin, Jonathan Moreil, Olivier Alibeu, Blandine Beaupain, Christine Bôle-Feysot, Stefano Fumagalli, Sophie Kaltenbach, Jean-Alain Martignoles, Cécile Masson, Patrick Nitschké, Mélanie Parisot, Aurore Pouliet, Isabelle Radford-Weiss, Frédéric Tores, Jean-Pierre de Villartay, Mohammed Zarhrate, Ai Ling Koh, Kong Boo Phua, Bruno Reversade, Peter J. Bond, Christine Bellanné-Chantelot, Isabelle Callebaut, François Delhommeau, Jean Donadieu, Alan J. Warren, Patrick Revy
Diterbitkan 2021-08-01Dapatkan teks lengkap
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Radiosensitivity in patients affected by ARPC1B deficiency: a new disease trait? oleh Maria Chiriaco, Giorgiana Madalina Ursu, Giorgiana Madalina Ursu, Donato Amodio, Nicola Cotugno, Nicola Cotugno, Stefano Volpi, Francesco Berardinelli, Francesco Berardinelli, Simone Pizzi, Cristina Cifaldi, Matteo Zoccolillo, Matteo Zoccolillo, Ignazia Prigione, Silvia Di Cesare, Silvia Di Cesare, Carmela Giancotta, Elisa Anastasio, Beatrice Rivalta, Beatrice Rivalta, Lucia Pacillo, Lucia Pacillo, Paola Zangari, Alessandro G. Fiocchi, Andrea Diociaiuti, Alessandro Bruselles, Francesca Pantaleoni, Andrea Ciolfi, Valentina D’Oria, Giuseppe Palumbo, Giuseppe Palumbo, Marco Gattorno, Maya El Hachem, Jean-Pierre de Villartay, Andrea Finocchi, Andrea Finocchi, Paolo Palma, Paolo Palma, Paolo Rossi, Paolo Rossi, Paolo Rossi, Marco Tartaglia, Alessandro Aiuti, Alessandro Aiuti, Alessandro Aiuti, Antonio Antoccia, Gigliola Di Matteo, Gigliola Di Matteo, Caterina Cancrini, Caterina Cancrini
Diterbitkan 2022-07-01Dapatkan teks lengkap
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