Výsledky vyhledávání - Atasu, Burcu
- Zobrazuji výsledky 1 - 3 z 3
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Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review Autor Atasu, Burcu, Acarlı, Ayse Nur Ozdag, Bilgic, Basar, Baykan, Betül, Demir, Erol, Ozluk, Yasemin, Turkmen, Aydin, Hauser, Ann-Kathrin, Guven, Gamze, Hanagasi, Hasmet, Gurvit, Hakan, Emre, Murat, Gasser, Thomas, Lohmann, Ebba
Vydáno 2022Text -
2
Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia Autor Mencacci, Niccolò E., Brockmann, Marisa M., Dai, Jinye, Pajusalu, Sander, Atasu, Burcu, Campos, Joaquin, Pino, Gabriela, Gonzalez-Latapi, Paulina, Patzke, Christopher, Schwake, Michael, Tucci, Arianna, Pittman, Alan, Simon-Sanchez, Javier, Carvill, Gemma L., Balint, Bettina, Wiethoff, Sarah, Warner, Thomas T., Papandreou, Apostolos, Soo, Audrey, Rein, Reet, Kadastik-Eerme, Liis, Puusepp, Sanna, Reinson, Karit, Tomberg, Tiiu, Hanagasi, Hasmet, Gasser, Thomas, Bhatia, Kailash P., Kurian, Manju A., Lohmann, Ebba, Õunap, Katrin, Rosenmund, Christian, Südhof, Thomas C., Wood, Nicholas W., Krainc, Dimitri, Acuna, Claudio
Vydáno 2021Text -
3
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia Autor Minnerop, Martina, Kurzwelly, Delia, Wagner, Holger, Soehn, Anne S, Reichbauer, Jennifer, Tao, Feifei, Rattay, Tim W, Peitz, Michael, Rehbach, Kristina, Giorgetti, Alejandro, Pyle, Angela, Thiele, Holger, Altmüller, Janine, Timmann, Dagmar, Karaca, Ilker, Lennarz, Martina, Baets, Jonathan, Hengel, Holger, Synofzik, Matthis, Atasu, Burcu, Feely, Shawna, Kennerson, Marina, Stendel, Claudia, Lindig, Tobias, Gonzalez, Michael A, Stirnberg, Rüdiger, Sturm, Marc, Roeske, Sandra, Jung, Johanna, Bauer, Peter, Lohmann, Ebba, Herms, Stefan, Heilmann-Heimbach, Stefanie, Nicholson, Garth, Mahanjah, Muhammad, Sharkia, Rajech, Carloni, Paolo, Brüstle, Oliver, Klopstock, Thomas, Mathews, Katherine D, Shy, Michael E, de Jonghe, Peter, Chinnery, Patrick F, Horvath, Rita, Kohlhase, Jürgen, Schmitt, Ina, Wolf, Michael, Greschus, Susanne, Amunts, Katrin, Maier, Wolfgang, Schöls, Ludger, Nürnberg, Peter, Zuchner, Stephan, Klockgether, Thomas, Ramirez, Alfredo, Schüle, Rebecca
Vydáno 2017Text