日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Epigenomic and phenotypic characterization of DEGCAGS syndrome

DEGCAGS综合征的表观基因组学和表型特征分析

Karimi, Karim; Weis, Denisa; Aukrust, Ingvild; Hsieh, Tzung-Chien; Horackova, Marie; Paulsen, Julie; Mendoza Londono, Roberto; Dupuis, Lucie; Dickson, Megan; Lesman, Hellen; Lau, Tracy; Murphy, David; Hama Salih, Khalid; Al-Musawi, Bassam M S; Al-Obaidi, Ruqayah G Y; Rydzanicz, Malgorzata; Biela, Mateus; Santos, Mafalda Saraiva; Aldeeri, Abdulrahman; Gazda, Hanna T; Pais, Lynn; Shril, Shirlee; Døllner, Henrik; Bartakke, Sandip; Laccone, Franco; Soltysova, Andrea; Kitzler, Thomas; Soliman, Neveen A; Relator, Raissa; Levy, Michael A; Kerkhof, Jennifer; Rzasa, Jessica; Houlden, Henry; Pilshofer, Gabriela V; Jobst-Schwan, Tilman; Hildebrandt, Friedhelm; Sousa, Sergio B; Maroofian, Reza; Yu, Timothy W; Krawitz, Peter; Sadikovic, Bekim; Douzgou Houge, Sofia

Monogenic variants in dystonia: an exome-wide sequencing study

肌张力障碍的单基因变异:一项全外显子组测序研究

Zech, Michael; Jech, Robert; Boesch, Sylvia; Škorvánek, Matej; Weber, Sandrina; Wagner, Matias; Zhao, Chen; Jochim, Angela; Necpál, Ján; Dincer, Yasemin; Vill, Katharina; Distelmaier, Felix; Stoklosa, Malgorzata; Krenn, Martin; Grunwald, Stephan; Bock-Bierbaum, Tobias; Fečíková, Anna; Havránková, Petra; Roth, Jan; Příhodová, Iva; Adamovičová, Miriam; Ulmanová, Olga; Bechyně, Karel; Danhofer, Pavlína; Veselý, Branislav; Haň, Vladimír; Pavelekova, Petra; Gdovinová, Zuzana; Mantel, Tobias; Meindl, Tobias; Sitzberger, Alexandra; Schröder, Sebastian; Blaschek, Astrid; Roser, Timo; Bonfert, Michaela V; Haberlandt, Edda; Plecko, Barbara; Leineweber, Birgit; Berweck, Steffen; Herberhold, Thomas; Langguth, Berthold; Švantnerová, Jana; Minár, Michal; Ramos-Rivera, Gonzalo Alonso; Wojcik, Monica H; Pajusalu, Sander; Õunap, Katrin; Schatz, Ulrich A; Pölsler, Laura; Milenkovic, Ivan; Laccone, Franco; Pilshofer, Veronika; Colombo, Roberto; Patzer, Steffi; Iuso, Arcangela; Vera, Julia; Troncoso, Monica; Fang, Fang; Prokisch, Holger; Wilbert, Friederike; Eckenweiler, Matthias; Graf, Elisabeth; Westphal, Dominik S; Riedhammer, Korbinian M; Brunet, Theresa; Alhaddad, Bader; Berutti, Riccardo; Strom, Tim M; Hecht, Martin; Baumann, Matthias; Wolf, Marc; Telegrafi, Aida; Person, Richard E; Zamora, Francisca Millan; Henderson, Lindsay B; Weise, David; Musacchio, Thomas; Volkmann, Jens; Szuto, Anna; Becker, Jessica; Cremer, Kirsten; Sycha, Thomas; Zimprich, Fritz; Kraus, Verena; Makowski, Christine; Gonzalez-Alegre, Pedro; Bardakjian, Tanya M; Ozelius, Laurie J; Vetro, Annalisa; Guerrini, Renzo; Maier, Esther; Borggraefe, Ingo; Kuster, Alice; Wortmann, Saskia B; Hackenberg, Annette; Steinfeld, Robert; Assmann, Birgit; Staufner, Christian; Opladen, Thomas; Růžička, Evžen; Cohn, Ronald D; Dyment, David; Chung, Wendy K; Engels, Hartmut; Ceballos-Baumann, Andres; Ploski, Rafal; Daumke, Oliver; Haslinger, Bernhard; Mall, Volker; Oexle, Konrad; Winkelmann, Juliane

Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia

编码赖氨酸特异性组蛋白甲基转移酶2B的KMT2B基因单倍体不足会导致早发性全身性肌张力障碍

Zech, Michael; Boesch, Sylvia; Maier, Esther M; Borggraefe, Ingo; Vill, Katharina; Laccone, Franco; Pilshofer, Veronika; Ceballos-Baumann, Andres; Alhaddad, Bader; Berutti, Riccardo; Poewe, Werner; Haack, Tobias B; Haslinger, Bernhard; Strom, Tim M; Winkelmann, Juliane