Zobrazeno 1 - 10
of 1 225
pro vyhledávání: '"Baethmann, A"'
Autor:
Bierhals, Tatjana, Korenke, Georg Christoph, Baethmann, Martina, Marín, Laura López, Staudt, Martin, Kutsche, Kerstin
Publikováno v:
In European Journal of Medical Genetics June 2018 61(6):329-334
Autor:
Tacke, Moritz, Borggraefe, Ingo, Gerstl, Lucia, Heinen, Florian, Vill, Katharina, Bonfert, Michaela, Bast, Thomas, Neubauer, Bernd Axel, Baumeister, Friedrich, Baethmann, Martina, Bentele, Karl, Blank, Christian, Blank, Harald M., Bode, Harald, Bosch, Friedrich, Brandl, Ulrich, Brockmann, Knut, Dahlem, Peter, Ernst, Jan-Peter, Feldmann, Evemarie, Fiedler, Andreas, Gerigk, Michael, Heß, Soeren, Hikel, Christiane, Hoffmann, Hans-Georg, Kieslich, Matthias, Klepper, Joerg, Kluger, Gerhard, Koch, Hartmut, Koch, Walter, Korinthenberg, Rudolf, Krois, Ilona, Kühne, Hermann, Kurlemann, Gerhard, Mandl, Michaela, Mause, Ulrike, Navratil, Peter, Opp, Joachim, Penzien, Johann, Prietsch, Viola, Quattländer, Axel, Rating, Dietz, Schara, Ulrike, Shamdeen, Mohammed G., Sprinz, Andreas, Wendker-Magrabi, Hildegard, Stephani, Ulrich, Muhle, Hiltrud, Straßburg, Hans-Michael, Töpke, Bärbel, Trollmann, Regina, Tuschen-Hofstätter, Elisabeth, Waltz, Stephan, Weber, Gabriele, Wien, Frank U., Wolff, Markus, Polster, Tilman, Freitag, Hedwig, Sönmez, Ötzcam, Reinhardt, Klaus, Traus, Marion, Hoovey, Zeecam
Publikováno v:
In Seizure: European Journal of Epilepsy March 2018 56:115-120
Autor:
Allgaier, Antje-Kathrin, Frühe, Barbara, Pietsch, Kathrin, Saravo, Barbara, Baethmann, Martina, Schulte-Körne, Gerd
Publikováno v:
In Journal of Psychosomatic Research November 2012 73(5):369-374
Autor:
Amy McTague, Siddharth Srivastava, Tamison Jewett, Ali Al-Beshri, Constance Smith-Hicks, Shelagh Joss, Jennifer A. Sullivan, Sarju G. Mehta, Koenraad Devriendt, Pascal Joset, Laurence Faivre, Emma Kivuva, William G. Wilson, Gunnar Houge, Naama Orenstein, Yana Hoorne, Vickie L. Hannig, Malou Heijligers, Bart Loeys, Vandana Shashi, Katrina Prescott, Iris Verbinnen, Annick Toutain, Lauren M. Baldwin, Stephen P. Fulton, Katharina Steindl, Anne Marie Childs, Anna Chassevent, Shelley Towner, Cornelia Daumer-Haas, Oded Wechsberg, Alison Male, Hannah F. Johnson, Wendy K. Chung, Anita Rauch, Anna Ruiz, Isabelle Maystadt, Sara Reynhout, Sébastien Moutton, Yvette van Ierland, Veerle Janssens, Frédéric Laumonnier, Martina Baethmann, Lisa Lenaerts, Vani Jain, Vinod Varghese, Suzanne M. Koudijs, Elisabeth Gabau, Frédérique Bonnet-Brilhault, Rizwan Hamid, Susan E. Holder, Barbara Plecko
Publikováno v:
Genetics in Medicine, 23(2), 352-362. Nature Publishing Group
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
Genetics in Medicine
Genetics in Medicine, Nature Publishing Group, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in Medicine, 23(2), 352-362. Lippincott Williams & Wilkins
Genetics in Medicine, 2021, 23 (2), pp.352-362. ⟨10.1038/s41436-020-00981-2⟩
Genetics in medicine
PURPOSE: Neurodevelopmental disorders (NDD) caused by protein phosphatase 2A (PP2A) dysfunction have mainly been associated with de novo variants in PPP2R5D and PPP2CA, and more rarely in PPP2R1A. Here, we aimed to better understand the latter by cha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f1563bdcdf43463d5995297a78f9c2f2
https://ddd.uab.cat/record/238621
https://ddd.uab.cat/record/238621
Autor:
G. C. Korenke, Kerstin Kutsche, Martina Baethmann, Tatjana Bierhals, Martin Staudt, Laura López Marín
Publikováno v:
European Journal of Medical Genetics. 61:329-334
Congenital mirror movements (CMM) are involuntary movements of one side of the body that mirror intentional movements of the other side. Heterozygous missense, frameshift and nonsense variants and small intragenic deletions in DCC cause CMM, isolated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa1c5ce140efa293803a06783428b08d
https://doi.org/10.1016/j.ejmg.2018.01.010
https://doi.org/10.1016/j.ejmg.2018.01.010
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