Search Results - Stephanie Andres

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  1. 1
    Maffucci syndrome and neoplasms: a case report and review of the literature

    Maffucci syndrome and neoplasms: a case report and review of the literature by Olga Prokopchuk, Stephanie Andres, Karen Becker, Konstantin Holzapfel, Daniel Hartmann, Helmut Frieß

    Published 2016
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  2. 2
    Analysis of Factor D Isoforms in Malpuech–Michels–Mingarelli–Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement

    Analysis of Factor D Isoforms in Malpuech–Michels–Mingarelli–Carnevale Patients Highlights the Role of MASP-3 as a Maturase in the Alternative Pathway of Complement by Rasmus Pihl, Lisbeth Jensen, Annette G. Hansen, Ida B. Thøgersen, Stephanie Andres, Frederik Dagnæs‐Hansen, Konrad Oexle, Jan J. Enghild, Steffen Thiel

    Published 2017
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    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption

    Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption by Caroline Nava, Benjamin Cogné, A. Santini, Elsa Leitão, François Lecoquierre, Yuyang Chen, Sarah L. Stenton, Thomas Besnard, Solveig Heide, Sarah Baer, Abhilasha Jakhar, Sonja Neuser, Boris Keren, Anne Faudet, Sylvie Forlani, Marie Faoucher, Kévin Uguen, Konrad Platzer, Alexandra Afenjar, Jean‐Luc Alessandri, Stephanie Andres, Chloé Angelini, Bernard Aral, Benoı̂t Arveiler, Tania Attié‐Bitach, Marion Aubert‐Mucca, Guillaume Banneau, Tahsin Stefan Barakat, Giulia Barcia, Stéphanie Baulac, Claire Bénéteau, Fouzia Benkerdou, Virginie Bernard, Stéphane Bézieau, Dominique Bonneau, Marie-Noelle Bonnet-Dupeyron, Simon Boussion, Odile Boute, Elise Brischoux‐Boucher, Samantha J. Bryen, Julien Buratti, Tiffany Busa, Almuth Caliebe, Yline Capri, Kévin Cassinari, Roseline Caumes, Camille Cenni, Pascal Chambon, Perrine Charles, John Christodoulou, Cindy Colson, Solène Conrad, Auriane Cospain, Juliette Coursimault, Thomas Courtin, Madeline Couse, Charles Coutton, Isabelle Creveaux, Alissa M. D’Gama, Benjamin Dauriat, Jean‐Madeleine de Sainte Agathe, Giulia Gobbo, Andrée Delahaye‐Duriez, Julian Delanne, Anne‐Sophie Denommé‐Pichon, Anne Dieux‐Coëslier, Laura Do Souto Ferreira, Martine Doco‐Fenzy, Stephan Drukewitz, Véronique Duboc, Christèle Dubourg, Yannis Duffourd, David A. Dyment, Salima El Chehadeh, Monique Elmaleh, Laurence Faivre, Samuel Fennelly, Hilde Fischer, Mélanie Fradin, Cédric Vaillant, Benjamin Ganne, Jamal Ghoumid, Himanshu Goel, Zeynep Gokce‐Samar, Alice Goldenberg, R. Robert, Svetlana Gorokhova, Louise Goujon, Victoria Granier, Mathilde Gras, John M. Greally, Bianca Greiten, Paul Gueguen, Anne‐Marie Guerrot, Saurav Guha, Anne Guimier, Tobias B. Haack, Hamza Hadj Abdallah, Yosra Halleb, Radu Harbuz

    Published 2025
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