Search Results - Birgit S. Budde

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  1. 1

    Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. by Birgit S Budde, Priska Binner, Stephan Waldmüller, Wolfgang Höhne, Wulf Blankenfeldt, Sabine Hassfeld, Jürgen Brömsen, Anastassia Dermintzoglou, Marcus Wieczorek, Erik May, Elisabeth Kirst, Carmen Selignow, Kirsten Rackebrandt, Melanie Müller, Roger S Goody, Hans-Peter Vosberg, Peter Nürnberg, Thomas Scheffold

    Published in PLoS ONE (2007-01-01)
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  2. 2

    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway by Maria Asif, Emrah Kaygusuz, Marwan Shinawi, Anna Nickelsen, Tzung-Chien Hsieh, Prerana Wagle, Birgit S. Budde, Jennifer Hochscherf, Uzma Abdullah, Stefan Höning, Christian Nienberg, Dirk Lindenblatt, Angelika A. Noegel, Janine Altmüller, Holger Thiele, Susanne Motameny, Nicole Fleischer, Idan Segal, Lynn Pais, Sigrid Tinschert, Nadra Nasser Samra, Juliann M. Savatt, Natasha L. Rudy, Chiara De Luca, Paola Fortugno, Susan M. White, Peter Krawitz, Anna C.E. Hurst, Karsten Niefind, Joachim Jose, Francesco Brancati, Peter Nürnberg, Muhammad Sajid Hussain

    Published in HGG Advances (2022-07-01)
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  3. 3

    Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors by Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz

    Published in JCI Insight (2023-11-01)
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