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, 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 and Visser, W. Edward
(2020)
Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study.
The Lancet Diabetes & Endocrinology 8 (7), pp. 594-605.
Fulltext not available.
, 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 and Winkelmann, Juliane
(2020)
Monogenic variants in dystonia: an exome-wide sequencing study.
The Lancet Neurology 19 (11), pp. 908-918.
Fulltext not available.
, 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
and Borgatti, Renato
(2017)
Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation.
European Radiology 27 (12), pp. 5080-5092.
Fulltext not available.
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