Výsledky vyhledávání - Antoine Hanauer

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  1. 1
    Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

    Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features Autor Raphaël Carapito, Martina Konantz, Catherine Paillard, Zhichao Miao, Angélique Pichot, Magalie S. Leduc, Yaping Yang, Katie Bergstrom, Donald H. Mahoney, Deborah L. Shardy, Ghada Alsaleh, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Véronique Rolli, Joëlle S. Müller, Elisa Alghisi, Loïc Sauteur, Cécile Macquin, Aurore Morlon, Consuelo Sebastia Sancho, Patrizia Amati‐Bonneau, Vincent Procaccio, Anne‐Laure Mosca‐Boidron, Nathalie Marle, Naël Osmani, Olivier Lefèbvre, Jacky G. Goetz, Şule Ünal, Nurten Akarsu, Mirjana Radosavljevic, Marie‐Pierre Chenard, Fanny Rialland, Audrey Grain, Marie C. Béné, Marion Eveillard, Marie Vincent, Julien Guy, Laurence Faivre, Christel Thauvin‐Robinet, Julien Thévenon, Kasiani C. Myers, Mark D. Fleming, Akiko Shimamura, Elodie Bottollier-Lemallaz, Éric Westhof, Claudia Lengerke, Bertrand Isidor, Seiamak Bahram

    Vydáno 2017
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  2. 2
    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder Autor Raphaël Carapito, Ekaterina L. Ivanova, Aurore Morlon, Linyan Meng, Anne Molitor, Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer, Nicodème Paul, Antoine Hanauer, Frédéric Tran Mau‐Them, Nolwenn Jean‐Marçais, Susan M. Hiatt, Gregory M. Cooper, Tatiana Tvrdik, Alison M. Muir, Clémantine Dimartino, Maya Chopra, Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux, Aurore Garde, Christel Thauvin‐Robinet, Xia Wang, Magalie S. Leduc, Meredith Phillips, Heather P. Crawford, Mary K. Kukolich, David Hunt, Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold, Christina Hung, David Viskochil, Sarah Dugan, Pınar Bayrak‐Toydemir, Géraldine Joly‐Helas, Anne‐Marie Guerrot, Caroline Schluth–Bolard, Marlène Rio, Ingrid M. Wentzensen, Kirsty McWalter, Rhonda E. Schnur, Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu, Jocelyn Céraline, Zijie Sun, Rafał Płoski, Carlos A. Bacino, Heather C. Mefford, Laurence Faivre, Olaf A. Bodamer, Jamel Chelly, Bertrand Isidor, Seiamak Bahram

    Vydáno 2019
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  3. 3
    Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort

    Identification of driver genes for critical forms of COVID-19 in a deeply phenotyped young patient cohort Autor Raphaël Carapito, Richard Y. Li, Julie Helms, Christine Carapito, Sharvari Gujja, Véronique Rolli, Raony Guimaraes, Jose Malagon-Lopez, Perrine Spinnhirny, Alexandre Lederle, Razieh Mohseninia, Aurélie Hirschler, Leslie Muller, Paul Bastard, Adrian Gervais, Qian Zhang, François Danion, Yvon Ruch, Maleka Schenck, Olivier Collange, Thiên‐Nga Chamaraux‐Tran, Anne Molitor, Angélique Pichot, Alice Bernard, Ouria Tahar, Sabrina Bibi-Triki, Haiguo Wu, Nicodème Paul, Sylvain Mayeur, Annabel Larnicol, Géraldine Laumond, Julia Frappier, Sylvie Schmidt, Antoine Hanauer, Cécile Macquin, Tristan Stemmelen, Michael Simons, Xavier Mariette, Olivier Hermine, Samira Fafi‐Kremer, B. Goichot, Bernard Drénou, Khaldoun Kuteifan, Julien Pottecher, Paul‐Michel Mertès, Shweta Kailasan, M. Javad Aman, Elisa Pin, Peter Nilsson, Anne Thomas, Alain Viari, Damien Sanlaville, Francis Schneider, Jean Sibilia, Pierre‐Louis Tharaux, Jean‐Laurent Casanova, Yves Hansmann, Daniel A. Lidar, Mirjana Radosavljevic, Jeffrey R. Gulcher, Ferhat Meziani, Christiane Moog, Thomas W. Chittenden, Seiamak Bahram

    Vydáno 2021
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  4. 4
    Identification of driver genes for severe forms of COVID-19 in a deeply phenotyped young patient cohort

    Identification of driver genes for severe forms of COVID-19 in a deeply phenotyped young patient cohort Autor Raphaël Carapito, Richard Li, Julie Helms, Christine Carapito, Sharvari Gujja, Véronique Rolli, Raony Guimaraes, Jose Malagon-Lopez, Perrine Spinnhirny, Razieh Mohseninia, Aurélie Hirschler, Leslie Muller, Paul Bastard, Adrian Gervais, Qian Zhang, François Danion, Yvon Ruch, Maleka Schenck-Dhif, Olivier Collange, Thiên‐Nga Chamaraux‐Tran, Anne Molitor, Angélique Pichot, Alice Bernard, Ouria Tahar, Sabrina Bibi-Triki, Haiguo Wu, Nicodème Paul, Sylvain Mayeur, Annabel Larnicol, Géraldine Laumond, Julia Frappier, Sylvie Schmidt, Antoine Hanauer, Cécile Macquin, Tristan Stemmelen, Michael Simons, Xavier Mariette, Olivier Hermine, Samira Fafi‐Kremer, B. Goichot, Bernard Drénou, Khaldoun Kuteifan, Julien Pottecher, Paul‐Michel Mertès, Shweta Kailasan, M. Javad Aman, Elisa Pin, Peter Nilsson, Anne Thomas, Alain Viari, Damien Sanlaville, Francis Schneider, Jean Sibilia, Pierre‐Louis Tharaux, Jean-Laurent Casanova, Yves Hansmann, Daniel A. Lidar, Mirjana Radosavljevic, Jeffrey R. Gulcher, Ferhat Meziani, Christiane Moog, Thomas W. Chittenden, Seiamak Bahram

    Vydáno 2021
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