Bilaketaren emaitzak - Gertrud Strobl‐Wildemann

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  1. 1
    Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

    Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics nork Gabriele Wildhardt, Birgit Zirn, Luitgard Graul‐Neumann, Juliane Wechtenbruch, M. Suckfüll, Annegret Buske, Axel Bohring, Christian Kubisch, Stefanie Vogt, Gertrud Strobl‐Wildemann, Marie T. Greally, Oliver Bartsch, Daniela Steinberger

    Argitaratua 2013
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  2. 2
    Loss-of-function variants in <i>MYCBP2</i> cause neurobehavioural phenotypes and corpus callosum defects

    Loss-of-function variants in <i>MYCBP2</i> cause neurobehavioural phenotypes and corpus callosum defects nork Lama AlAbdi, Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani, David R. Murdock, Lindsay C. Burrage, Ping Yee Billie Au, Shelley Towner, William G. Wilson, Ka Sing Wong, Theresa Brunet, Gertrud Strobl‐Wildemann, Jennifer Burton, George Hoganson, Kirsty McWalter, Amber Begtrup, Yuri A. Zárate, Elyse Christensen, Karla J. Opperman, Andrew C. Giles, Rana Helaby, Artur Kania, Ning Zheng, Brock Grill, Fowzan S. Alkuraya

    Argitaratua 2022
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  3. 3
    <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center

    <i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center nork Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matěj Škorvánek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, A. Sebastian Schroeder, Robert Steinfeld, Gertrud Strobl‐Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner

    Argitaratua 2021
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  4. 4
    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy

    Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy nork Melanie Brugger, Antonella Lauri, Zhen Yan, Laura Ludovica Gramegna, Benedikt Zott, Nikolina Sekulić, Giulia Fasano, Robert Kopajtich, Viviana Cordeddu, Francesca Clementina Radio, Cecilia Mancini, Simone Pizzi, Graziamaria Paradisi, Ginevra Zanni, Gessica Vasco, Rosalba Carrozzo, Flavia Palombo, Caterina Tonon, Raffaele Lodi, Chiara La Morgia, Maria Arélin, Cristiane Blechschmidt, Tom Finck, Vigdis Sørensen, Kornelia Kreiser, Gertrud Strobl‐Wildemann, Hagit Daum, Rachel Michaelson‐Cohen, Lucia Ziccardi, Giuseppe Zampino, Holger Prokisch, Rami Abou Jamra, Claudio Fiorini, Thomas Arzberger, Juliane Winkelmann, Leonardo Caporali, Valério Carelli, Harald Stenmark, Marco Tartaglia, Matias Wagner

    Argitaratua 2024
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