Hasil Pencarian - Birgit S. Budde

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  1. 1
    Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity.

    Genes from Chagas susceptibility loci that are differentially expressed in T. cruzi-resistant mice are candidates accounting for impaired immunity. oleh Sebastian E B Graefe, Thomas Streichert, Birgit S Budde, Peter Nürnberg, Christiane Steeg, Bertram Müller-Myhsok, Bernhard Fleischer

    Diterbitkan 2006-01-01
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  2. 2
    First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

    First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene oleh Dominika Oziębło, Anna Sarosiak, Marcin L. Leja, Birgit S. Budde, Grażyna Tacikowska, Nataliya Di Donato, Hanno J. Bolz, Peter Nürnberg, Henryk Skarżyński, Monika Ołdak

    Diterbitkan 2019-10-01
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  3. 3
    Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene.

    Noncompaction of the ventricular myocardium is associated with a de novo mutation in the beta-myosin heavy chain gene. oleh 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

    Diterbitkan 2007-01-01
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  4. 4
    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

    De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway oleh 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

    Diterbitkan 2022-07-01
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  5. 5
    Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors

    Biallelic MAD2L1BP (p31comet) mutation is associated with mosaic aneuploidy and juvenile granulosa cell tumors oleh 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

    Diterbitkan 2023-11-01
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