Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Author "Haack, Tobias"

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Browsing 8 Zentrale, interfakultäre und fakultätsübergreifende Einrichtungen by Author "Haack, Tobias"

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  • Lessons Learned from Translating Genome Sequencing to Clinical Routine: Understanding the Accuracy of a Diagnostic Pipeline
    Park, Joohyun; Sturm, Marc; Seibel-Kelemen, Olga; Ossowski, Stephan; Haack, Tobias B.; Witsch-Baumgartner, Martina; Muehlegger, Beatrix (2024)
  • Multicentric pilot study to standardize clinical whole exome sequencing (WES) for cancer patients
    Menzel, Michael; Ossowski, Stephan; Kral, Sebastian; Metzger, Patrick; Horak, Peter; Marienfeld, Ralf; Boerries, Melanie; Wolter, Steffen; Ball, Markus; Neumann, Olaf; Armeanu-Ebinger, Sorin; Schroeder, Christopher; Matysiak, Uta; Goldschmid, Hannah; Schipperges, Vincent; Fuerstberger, Axel; Allgaeuer, Michael; Eberhardt, Timo; Niewoehner, Jakob; Blaumeiser, Andreas; Ploeger, Carolin; Haack, Tobias Bernd; Tay, Timothy Kwang Yong; Kelemen, Olga; Pauli, Thomas; Kirchner, Martina; Kluck, Klaus; Ott, Alexander; Renner, Marcus; Admard, Jakob; Gschwind, Axel; Lassmann, Silke; Kestler, Hans; Fend, Falko; Illert, Anna Lena; Werner, Martin; Moeller, Peter; Seufferlein, Thomas Theodor Werner; Malek, Nisar; Schirmacher, Peter; Froehling, Stefan; Kazdal, Daniel; Budczies, Jan; Stenzinger, Albrecht (2023)
  • Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease
    Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; van de Warrenburg, Bart P.; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli; Synofzik, Matthis (2021)
  • Ophthalmic and Genetic Features of Bardet Biedl Syndrome in a German Cohort
    Nasser, Fadi; Kohl, Susanne; Kurtenbach, Anne; Kempf, Melanie; Biskup, Saskia; Zuleger, Theresia; Haack, Tobias B.; Weisschuh, Nicole; Stingl, Katarina; Zrenner, Eberhart (2022)
  • 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)
  • Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases
    Maas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. (2017)
  • SOPH syndrome in three affected individuals showing similarities with progeroid cutis laxa conditions in early infancy
    Fischer-Zirnsak, Bjoern; Koenig, Rainer; Alisch, Franz; Gunes, Nilay; Hausser, Ingrid; Saha, Namrata; Beck-Woedl, Stefanie; Haack, Tobias B.; Thiel, Christian; Kamrath, Clemens; Tuysuz, Beyhan; Henning, Stephan; Mundlos, Stefan; Hoffmann, Katrin; Horn, Denise; Kornak, Uwe (2019)
  • Tetraparesis and sensorimotor axonal polyneuropathy due to co-occurrence of Pompe disease and hereditary ATTR amyloidosis
    Zimmermann, Milan; Deininger, Natalie; Willikens, Sophia; Haack, Tobias B.; Grundmann-Hauser, Kathrin; Streubel, Berthold; Schreiber, Melanie; Lerche, Holger; Grimm, Alexander (2021)
  • The movement disorder spectrum of SCA21 (ATX-TMEM240) : 3 novel families and systematic review of the literature
    Traschuetz, Andreas; van Gaalen, Judith; Oosterloo, Mayke; Vreeburg, Maaike; Kamsteeg, Erik-Jan; Deininger, Natalie; Riess, Olaf; Reimold, Matthias; Haack, Tobias; Schoels, Ludger; van de Warrenburg, Bart P.; Synofzik, Matthis (2019)
  • The prodromal phase of hereditary spastic paraplegia type 4: the preSPG4 cohort study
    Rattay, Tim W.; Voelker, Maximilian; Rautenberg, Maren; Kessler, Christoph; Wurster, Isabel; Winter, Natalie; Haack, Tobias B.; Lindig, Tobias; Hengel, Holger; Synofzik, Matthis; Schule, Rebecca; Martus, Peter; Schoels, Ludger (2023)
  • Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
    Fard, Mohammad Ali Farazi; Rebelo, Adriana P.; Buglo, Elena; Nemati, Hamid; Dastsooz, Hassan; Gehweiler, Ina; Reich, Selina; Reichbauer, Jennifer; Quintans, Beatriz; Ordonez-Ugalde, Andres; Cortese, Andrea; Courel, Steve; Abreu, Lisa; Powell, Eric; Danzi, Matt; Martuscelli, Nicole B.; Bis-Brewer, Dana M.; Tao, Feifei; Zarei, Fariba; Habibzadeh, Parham; Yavarian, Majid; Modarresi, Farzaneh; Silawi, Mohammad; Tabatabaei, Zahra; Yousefi, Masoume; Farpour, Hamid Reza; Kessler, Christoph; Mangold, Elisabeth; Kobeleva, Xenia; Mueller, Amelie J.; Haack, Tobias B.; Tarnopolsky, Mark; Gan-Or, Ziv; Rouleau, Guy A.; Synofzik, Matthis; Sobrido, Maria-Jesus; Jordanova, Albena; Schule, Rebecca; Zuchner, Stephan; Faghihi, Mohammad Ali (2019)