Søgeresultater - Sabine Weidensee

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    Diagnostic value of partial exome sequencing in developmental disorders

    Diagnostic value of partial exome sequencing in developmental disorders af Laura Gieldon, Luisa Mackenroth, Anne‐Karin Kahlert, Johannes R. Lemke, Joseph Porrmann, Jens Schallner, Maja von der Hagen, Susanne Markus, Sabine Weidensee, Barbara Novotna, Charlotte Soerensen, Barbara Klink, Johannes Maximilian Wagner, Andreas Tzschach, Arne Jahn, Franziska Kuhlee, Karl Hackmann, Evelin Schröck, Nataliya Di Donato, Andreas Rump

    Udgivet 2018
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    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals

    PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals af Antje Kampmeier, Elsa Leitão, Ilaria Parenti, Jasmin Beygo, Christel Depienne, Nuria C. Bramswig, Tzung‐Chien Hsieh, Alexandra Afenjar, Stefanie Beck‐Wödl, Ute Grasshoff, Tobias B. Haack, Emilia K. Bijlsma, Claudia Ruivenkamp, Eva Lausberg, Miriam Elbracht, Maria K. Haanpää, Hannele Koillinen, Uwe Heinrich, Imma Rost, Rami Abou Jamra, Denny Popp, Margarete Koch‐Hogrebe, Kevin Rostásy, Vanesa López‐González, María José Sánchez-Soler, Catarina Macedo, Ariane Schmetz, Carmen Steinborn, Sabine Weidensee, Hellen Lesmann, Felix Marbach, Pilar Caro, Christian P. Schaaf, Peter Krawitz, Dagmar Wieczorek, Frank J. Kaiser, Alma Kuechler

    Udgivet 2023
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