Browsing Universitätsbibliographie by Author "Buchert, Rebecca"

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Browsing Universitätsbibliographie by Author "Buchert, Rebecca"

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  • Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy
    Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Levesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Abd Elmaksoud, Marwa; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S-Y; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuss, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Network, Undiagnosed Diseases; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-Francois; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S. (2024)
  • Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential
    Gburek-Augustat, Janina; Schoene-Bake, Jan-Christoph; Bueltmann, Eva; Haack, Tobias; Buchert, Rebecca; Synofzik, Matthis; Biskup, Saskia; Feuerhake, Friedrich; Sorge, Ina; Hartmann, Hans (2021)
  • Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
    Laugwitz, Lucia; Buchert, Rebecca; Groeschel, Samuel; Riess, Angelika; Grimmel, Mona; Beck-Woedl, Stefanie; Sturm, Marc; Gohla, Georg; Doebler-Neumann, Marion; Kraegeloh-Mann, Ingeborg; Haack, Tobias B. (2020)
  • SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
    Buchert, Rebecca; Nesbitt, Addie I.; Tawamie, Hasan; Krantz, Ian D.; Medne, Livija; Helbig, Ingo; Matalon, Dena R.; Reis, Andre; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami (2016)
  • Two cases of variant late infantile ceroid lipofuscinosis in Jordan
    Nafi, Omar; Ramadan, Bashar; Riess, Olaf; Buchert, Rebecca; Froukh, Tawfiq (2019)
  • Unraveling the genetic cause of hereditary ophthalmic disorders in Arab societies from Israel and the Palestinian Authority
    Mayer, Anja K.; Balousha, Ghassan; Sharkia, Rajech; Mahajnah, Muhammad; Ayesh, Suhail; Schulze, Martin; Buchert, Rebecca; Zobor, Ditta; Azem, Abdussalam; Schoels, Ludger; Bauer, Peter; Wissinger, Bernd (2020)
  • ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations
    Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B. (2024)