Anzahl der Einträge: 3.
Artikel
Groeneweg, Stefan,
van Geest, Ferdy S.,
Abacı, Ayhan,
Alcantud, Alberto,
Ambegaonkar, Gautem P.,
Armour, Christine M.,
Bakhtiani, Priyanka,
Barca, Diana,
Bertini, Enrico S. ,
van Beynum, Ingrid M.,
Brunetti-Pierri, Nicola ,
Bugiani, Marianna,
Cappa, Marco,
Cappuccio, Gerarda,
Castellotti, Barbara,
Castiglioni, Claudia ,
Chatterjee, Krishna,
de Coo, Irenaeus F. M.,
Coutant, Régis,
Craiu, Dana,
Crock, Patricia,
DeGoede, Christian,
Demir, Korcan,
Dica, Alice,
Dimitri, Paul,
Dolcetta-Capuzzo, Anna,
Dremmen, Marjolein H. G.,
Dubey, Rachana,
Enderli, Anina,
Fairchild, Jan,
Gallichan, Jonathan,
George, Belinda,
Gevers, Evelien F.,
Hackenberg, Annette,
Halász, Zita,
Heinrich, Bianka,
Huynh, Tony ,
Kłosowska, Anna,
van der Knaap, Marjo S.,
van der Knoop, Marieke M.,
Konrad, Daniel ,
Koolen, David A.,
Krude, Heiko,
Lawson-Yuen, Amy,
Lebl, Jan,
Linder-Lucht, Michaela,
Lorea, Cláudia F.,
Lourenço, Charles M.,
Lunsing, Roelineke J.,
Lyons, Greta,
Malikova, Jana,
Mancilla, Edna E.,
McGowan, Anne,
Mericq, Veronica,
Lora, Felipe M.,
Moran, Carla,
Müller, Katalin E.,
Oliver-Petit, Isabelle,
Paone, Laura,
Paul, Praveen G.,
Polak, Michel,
Porta, Francesco,
Poswar, Fabiano O. ,
Reinauer, Christina,
Rozenkova, Klara,
Menevse, Tuba S.,
Simm, Peter,
Simon, Anna,
Singh, Yogen,
Spada, Marco,
van der Spek, Jet,
Stals, Milou A. M.,
Stoupa, Athanasia,
Subramanian, Gopinath M.,
Tonduti, Davide,
Turan, Serap,
den Uil, Corstiaan A.,
Vanderniet, Joel,
van der Walt, Adri,
Wémeau, Jean-Louis,
Wierzba, Jolante,
de Wit, Marie-Claire Y.,
Wolf, Nicole I.,
Wurm, Michael,
Zibordi, Federica,
Zung, Amnon,
Zwaveling-Soonawala, Nitash und
Visser, W. Edward
(2020)
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
The Lancet Diabetes & Endocrinology 8 (7), S. 594-605.
Volltext nicht vorhanden.
Zech, Michael,
Jech, Robert,
Boesch, Sylvia,
Škorvánek, Matej,
Weber, Sandrina,
Wagner, Matias,
Zhao, Chen,
Jochim, Angela,
Necpál, Ján,
Dincer, Yasemin,
Vill, Katharina,
Distelmaier, Felix,
Stoklosa, Malgorzata,
Krenn, Martin,
Grunwald, Stephan ,
Bock-Bierbaum, Tobias,
Fečíková, Anna,
Havránková, Petra,
Roth, Jan,
Příhodová, Iva,
Adamovičová, Miriam,
Ulmanová, Olga,
Bechyně, Karel,
Danhofer, Pavlína,
Veselý, Branislav,
Haň, Vladimír,
Pavelekova, Petra,
Gdovinová, Zuzana,
Mantel, Tobias,
Meindl, Tobias,
Sitzberger, Alexandra,
Schröder, Sebastian,
Blaschek, Astrid,
Roser, Timo,
Bonfert, Michaela V.,
Haberlandt, Edda,
Plecko, Barbara,
Leineweber, Birgit,
Berweck, Steffen,
Herberhold, Thomas,
Langguth, Berthold,
Švantnerová, Jana,
Minár, Michal,
Ramos-Rivera, Gonzalo Alonso,
Wojcik, Monica H.,
Pajusalu, Sander,
Õunap, Katrin,
Schatz, Ulrich A.,
Pölsler, Laura,
Milenkovic, Ivan ,
Laccone, Franco,
Pilshofer, Veronika,
Colombo, Roberto,
Patzer, Steffi,
Iuso, Arcangela,
Vera, Julia,
Troncoso, Monica,
Fang, Fang,
Prokisch, Holger,
Wilbert, Friederike,
Eckenweiler, Matthias,
Graf, Elisabeth,
Westphal, Dominik S.,
Riedhammer, Korbinian M.,
Brunet, Theresa,
Alhaddad, Bader,
Berutti, Riccardo,
Strom, Tim M.,
Hecht, Martin,
Baumann, Matthias,
Wolf, Marc,
Telegrafi, Aida,
Person, Richard E.,
Zamora, Francisca Millan,
Henderson, Lindsay B.,
Weise, David,
Musacchio, Thomas,
Volkmann, Jens,
Szuto, Anna,
Becker, Jessica,
Cremer, Kirsten,
Sycha, Thomas,
Zimprich, Fritz,
Kraus, Verena,
Makowski, Christine,
Gonzalez-Alegre, Pedro,
Bardakjian, Tanya M.,
Ozelius, Laurie J.,
Vetro, Annalisa,
Guerrini, Renzo ,
Maier, Esther,
Borggraefe, Ingo,
Kuster, Alice,
Wortmann, Saskia B.,
Hackenberg, Annette,
Steinfeld, Robert,
Assmann, Birgit,
Staufner, Christian,
Opladen, Thomas,
Růžička, Evžen,
Cohn, Ronald D.,
Dyment, David,
Chung, Wendy K.,
Engels, Hartmut,
Ceballos-Baumann, Andres,
Ploski, Rafal,
Daumke, Oliver,
Haslinger, Bernhard,
Mall, Volker,
Oexle, Konrad und
Winkelmann, Juliane
(2020)
Monogenic variants in dystonia: an exome-wide sequencing study.
The Lancet Neurology 19 (11), S. 908-918.
Volltext nicht vorhanden.
Romaniello, Romina,
Arrigoni, Filippo,
Panzeri, Elena,
Poretti, Andrea,
Micalizzi, Alessia ,
Citterio, Andrea ,
Bedeschi, Maria Francesca,
Berardinelli, Angela,
Cusmai, Raffaella,
D’Arrigo, Stefano,
Ferraris, Alessandro,
Hackenberg, Annette,
Kuechler, Alma,
Mancardi, Margherita,
Nuovo, Sara ,
Oehl-Jaschkowitz, Barbara,
Rossi, Andrea ,
Signorini, Sabrina,
Tüttelmann, Frank,
Wahl, Dagmar,
Hehr, Ute,
Boltshauser, Eugen,
Bassi, Maria Teresa,
Valente, Enza Maria und
Borgatti, Renato
(2017)
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
European Radiology 27 (12), S. 5080-5092.
Volltext nicht vorhanden.
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