检索结果 - Atasu, Burcu

  • Showing 1 - 3 results of 3
Refine Results
  1. 1
    Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

    Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review 由 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

    出版 2022
    获取全文 获取全文 获取全文
    Text
    加到收藏夹
    Saved in:
  2. 2
    Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia

    Biallelic variants in TSPOAP1, encoding the active-zone protein RIMBP1, cause autosomal recessive dystonia 由 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

    出版 2021
    获取全文 获取全文 获取全文
    Text
    加到收藏夹
    Saved in:
  3. 3
    Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia

    Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia 由 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

    出版 2017
    获取全文 获取全文 获取全文
    Text
    加到收藏夹
    Saved in:

检索工具: