Search Results - Gburek-Augustat, Janina

Genome sequencing for diagnosing rare diseases by Wojcik, Monica H. (Author) , Lemire, Gabrielle (Author) , Berger, Eva (Author) , Zaki, Maha S. (Author) , Wissmann, Mariel (Author) , Win, Wathone (Author) , White, Susan M. (Author) , Weisburd, Ben (Author) , Wieczorek, Dagmar (Author) , Waddell, Leigh B. (Author) , Verboon, Jeffrey M. (Author) , VanNoy, Grace E. (Author) , Töpf, Ana (Author) , Tan, Tiong Yang (Author) , Syrbe, Steffen (Author) , Strehlow, Vincent (Author) , Straub, Volker (Author) , Stenton, Sarah L. (Author) , Snow, Hana (Author) , Singer-Berk, Moriel (Author) , Silver, Josh (Author) , Shril, Shirlee (Author) , Seaby, Eleanor G. (Author) , Schneider, Ronen (Author) , Sankaran, Vijay G. (Author) , Sanchis-Juan, Alba (Author) , Russell, Kathryn A. (Author) , Reinson, Karit (Author) , Ravenscroft, Gianina (Author) , Radtke, Maximilian (Author) , Popp, Denny (Author) , Polster, Tilman (Author) , Platzer, Konrad (Author) , Pierce, Eric A. (Author) , Place, Emily M. (Author) , Pajusalu, Sander (Author) , Pais, Lynn (Author) , Õunap, Katrin (Author) , Osei-Owusu, Ikeoluwa (Author) , Opperman, Henry (Author) , Okur, Volkan (Author) , Oja, Kaisa Teele (Author) , O’Leary, Melanie (Author) , O’Heir, Emily (Author) , Morel, Chantal F. (Author) , Merkenschlager, Andreas (Author) , Marchant, Rhett G. (Author) , Mangilog, Brian E. (Author) , Madden, Jill A. (Author) , MacArthur, Daniel (Author) , Lovgren, Alysia (Author) , Lerner-Ellis, Jordan P. (Author) , Lin, Jasmine (Author) , Laing, Nigel (Author) , Hildebrandt, Friedhelm (Author) , Hentschel, Julia (Author) , Groopman, Emily (Author) , Goodrich, Julia (Author) , Gleeson, Joseph G. (Author) , Ghaoui, Roula (Author) , Genetti, Casie A. (Author) , Gburek-Augustat, Janina (Author) , Gazda, Hanna T. (Author) , Ganesh, Vijay S. (Author) , Ganapathi, Mythily (Author) , Gallacher, Lyndon (Author) , Fu, Jack M. (Author) , Evangelista, Emily (Author) , England, Eleina (Author) , Donkervoort, Sandra (Author) , DiTroia, Stephanie (Author) , Cooper, Sandra T. (Author) , Chung, Wendy K. (Author) , Christodoulou, John (Author) , Chao, Katherine R. (Author) , Cato, Liam D. (Author) , Bujakowska, Kinga M. (Author) , Bryen, Samantha J. (Author) , Brand, Harrison (Author) , Bönnemann, Carsten G. (Author) , Beggs, Alan H. (Author) , Baxter, Samantha M. (Author) , Bartolomaeus, Tobias (Author) , Agrawal, Pankaj B. (Author) , Talkowski, Michael (Author) , Austin-Tse, Christina (Author) , Jamra, Rami Abou (Author) , Rehm, Heidi L. (Author) , O’Donnell-Luria, Anne (Author) ,

• Verlag, lizenzpflichtig, Volltext
• Verlag, lizenzpflichtig, Volltext

Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1 by Thalwitzer, Kim M. (Author) , Driedger, Jan Henje (Author) , Xian, Julie (Author) , Saffari, Afshin (Author) , Zacher, Pia (Author) , Bölsterli, Bigna K. (Author) , McKeown Ruggiero, Sarah (Author) , Sullivan, Katie Rose (Author) , Datta, Alexandre N. (Author) , Kellinghaus, Christoph (Author) , Althaus, Jürgen (Author) , Wiemer-Kruel, Adelheid (Author) , van Baalen, Andreas (Author) , Pampel, Armin (Author) , Alber, Michael (Author) , Braakman, Hilde M. H. (Author) , Debus, Otfried Martin (Author) , Denecke, Jonas (Author) , Hobbiebrunken, Elke (Author) , Breitweg, Ina (Author) , Diehl, Danielle (Author) , Eitel, Hans Christian (Author) , Gburek-Augustat, Janina (Author) , Preisel, Martin (Author) , Schlump, Jan-Ulrich (Author) , Laufs, Mirjam (Author) , Mammadova, Dilbar (Author) , Wurst, Carsten (Author) , Prager, Christine (Author) , Löhr-Nilles, Christa (Author) , Martin, Peter (Author) , Garbade, Sven (Author) , Platzer, Konrad (Author) , Benkel-Herrenbrueck, Ira (Author) , Egler, Kerstin (Author) , Fazeli, Walid (Author) , Lemke, Johannes R. (Author) , Runkel, Eva (Author) , Klein, Barbara (Author) , Linden, Tobias (Author) , Schröter, Julian (Author) , Steffeck, Heike (Author) , Thies, Bastian (Author) , Deimling, Florian von (Author) , Illsinger, Sabine (Author) , Borggräfe, Ingo (Author) , Classen, Georg (Author) , Wieczorek, Dagmar (Author) , Ramantani, Georgia (Author) , Kölker, Stefan (Author) , Hoffmann, Georg F. (Author) , Ries, Markus (Author) , Helbig, Ingo (Author) , Syrbe, Steffen (Author) ,

• Resolving-System, lizenzpflichtig

The ARCA Registry: a collaborative global platform for advancing trial readiness in autosomal recessive cerebellar ataxias by Traschütz, Andreas (Author) , Reich, Selina (Author) , Adarmes, Astrid D. (Author) , Anheim, Mathieu (Author) , Ashrafi, Mahmoud Reza (Author) , Baets, Jonathan (Author) , Basak, A. Nazli (Author) , Bertini, Enrico (Author) , Brais, Bernard (Author) , Gagnon, Cynthia (Author) , Gburek-Augustat, Janina (Author) , Hanagasi, Hasmet A. (Author) , Heinzmann, Anna Constanze (Author) , Horvath, Rita (Author) , Jonghe, Peter de (Author) , Kamm, Christoph (Author) , Klivenyi, Peter (Author) , Klopstock, Thomas (Author) , Minnerop, Martina (Author) , Münchau, Alexander (Author) , Renaud, Mathilde (Author) , Roxburgh, Richard H. (Author) , Santorelli, Filippo M. (Author) , Schirinzi, Tommaso (Author) , Sival, Deborah A. (Author) , Timmann-Braun, Dagmar (Author) , Vielhaber, Stefan (Author) , Wallner, Michael (Author) , Warrenburg, Bart Petrus Christoffel van de (Author) , Zanni, Ginevra (Author) , Züchner, Stephan (Author) , Klockgether, Thomas (Author) , Schüle-Freyer, Rebecca (Author) , Schöls, Ludger (Author) , Synofzik, Matthis (Author) ,

• Resolving-System, kostenfrei