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The constitutional gain-of-function variant p.Glu1099Lys in NSD2 is associated with a novel syndrome
Academic Journal
Popp, Bernt; Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Sorge, Ina; Lemke, Johannes R.; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent; Brunet, Theresa
Academic Journal
Synofzik, Matthis; Soehn, Anne S.; Gburek-Augustat, Janina; Schicks, Julia; Karle, Kathrin N.; Schüle, Rebecca; Haack, Tobias B.; Schöning, Martin; Biskup, Saskia; Rudnik-Schöneborn, Sabine; Senderek, Jan; Hoffmann, Karl-Titus; MacLeod, Patrick; Schwarz, Johannes; Bender, Benjamin; Krüger, Stefan; Kreuz, Friedmar; Bauer, Peter; Schöls, Ludger
Academic Journal
Academic Journal
Gburek-Augustat, Janina; Groeschel, Samuel; Kern, Jan; Beck-Woedl, Stefanie; Just, Jennifer; Harzer, Klaus; Stampfer, Miriam; Kraegeloh-Mann, Ingeborg
Academic Journal
Academic Journal
Kloeckner, Chiara; Murray, J. Pedro Fernandez; Tavasoli, Mahtab; Sticht, Heinrich; Stoltenburg-Didinger, Gisela; Scholle, Leila Motlagh; Bakhtiari, Somayeh; Kruer, Michael C.; Darvish, Hossein; Firouzabadi, Saghar Ghasemi; Pagnozzi, Alex; Shukla, Anju; Girisha, Katta Mohan; Narayanan, Dhanya Lakshmi; Kaur, Parneet; Maroofian, Reza; Zaki, Maha S.; Noureldeen, Mahmoud M.; Merkenschlager, Andreas; Gburek-Augustat, Janina; Cali, Elisa; Banu, Selina; Nahar, Kamrun; Efthymiou, Stephanie; Houlden, Henry; Abou Jamra, Rami; Williams, Jason; McMaster, Christopher R.; Platzer, Konrad
Periodical
Synofzik, Matthis; Helbig, Katherine; Harmuth, Florian; Deconinck, Tine; Tanpaiboon, Pranoot; Sun, Bo; Guo, Wenting; Wang, Ruiwu; Palmaer, Erika; Tang, Sha; Schaefer, G.; Gburek-Augustat, Janina; Züchner, Stephan; Krägeloh-Mann, Ingeborg; Baets, Jonathan; Jonghe, Peter; Bauer, Peter; Chen, S.; Schöls, Ludger; Schüle, Rebecca
European Journal of Human Genetics: EJHG; November 2018, Vol. 26 Issue: 11 p1623-1634, 12p
Academic Journal
Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; de Jonghe, Peter; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; van de Warrenburg, Bart P.; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger; Synofzik, Matthis; PREPARE Consortium
Academic Journal
Brugger, Melanie; Poschmann, Sibylle; Bartolomaeus, Tobias; Radtke, Maximilian; Hentschel, Julia; Di Donato, Nataliya; Rump, Andreas; Gburek-Augustat, Janina; Graf, Elisabeth; Wagner, Matias; Lemke, Johannes; Meitinger, Thomas; Abou Jamra, Rami; Strehlow, Vincent; Brunet, Theresa; Popp, Bernt
Academic Journal
Liebmann, Nora; Sterker, Ina; Sorge, Ina; Opitz, Sabine; Merkenschlager, Andreas; Gburek-Augustat, Janina
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[AR] Gburek-Augustat, Janina
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