Suchergebnisse - Aline Kolmer

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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 von 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

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

    ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder von 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

    Veröffentlicht 2019
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