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Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings

by Schmidt, Axel, Danyel, Magdalena, Brunet, Theresa, Knaus, Alexej, Moosa, Shahida, Averdunk, Luisa, Sczakiel, Henrike Lisa, Schwartzmann, Sarina, Mensah, Martin Atta, Pantel, Jean Tori, Holtgrewe, Manuel, Weiß, Claudia, Weinhold, Natalie, Suter, Aude-Annick, Stoltenburg, Corinna, Neugebauer, Julia, Kallinich, Tillmann, Kornak, Uwe, Nguyen, Hoa Huu Phuc, Hoffjan, Sabine, Rothoeft, Tobias, Brinkmann, Folke, Sivalingam, Sugirthan, Mangold, Elisabeth, Kreiss, Martina, Spier, Isabel, Stieber, Christiane, Karakostas, Pantelis, Schäfer, Valentin S., Bernsen, Sarah, Weydt, Patrick, Castro-Gomez, Sergio, Aziz, Ahmad, Kimmich, Okka, Önder, Demet, Kumar, Sheetal, Tacik, Pawel, Basin, Meghna Ahuja, Lee-Kirsch, Min Ae, Schuetz, Catharina, Körholz, Julia, Kaiser, Frank J., Manka, Eva, Munteanu, Martin, Hirtz, Raphael, Schlein, Christian, Lisfeld, Jasmin, Herget, Theresia, Weiler-Normann, Christina, Ullrich, Kurt, Schramm, Christoph, Tibelius, Alexandra, Schwaibold, Eva M. C., Schaaf, Christian P., Zawada, Michal, Hinderhofer, Katrin, Okun, Pamela M., Choukair, Daniela, Bettendorf, Markus, Ripke, Annekatrin, Pauly, Martje, Lohmann, Katja, Bäumer, Tobias, Westphal, Dominik S., Strom, Tim, Kovacs, Reka, Riedhammer, Korbinian M., Mayerhanser, Katharina, Oexle, Konrad, Krenn, Martin, Makowski, Christine, Weigand, Heike, Schröder, Sebastian, Vill, Katharina, Hauck, Fabian, Borggraefe, Ingo, Kurth, Ingo, Knopp, Cordula, Begemann, Matthias, Kraft, Florian, Lemke, Johannes R., Hentschel, Julia, Strehlow, Vincent, Abou Jamra, Rami, Demidov, German, Zeltner, Lena, Schöls, Ludger J., Magg, Janine, Bevot, Andrea, Kehrer, Christiane, Turro, Ernest, Horn, Denise, Grüters-Kieslich, Annette, Klein, Christoph, Nöthen, Markus, Riess, Olaf, Meitinger, Thomas, Krude, Heiko, Krawitz, Peter M., Haack, Tobias
Published in Nature genetics (01.08.2024)

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