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Jump to: 2020 | 2017
Number of items: 3.

2020

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 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.

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 and Winkelmann, Juliane (2020) Monogenic variants in dystonia: an exome-wide sequencing study. The Lancet Neurology 19 (11), pp. 908-918. Fulltext not available.

2017

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 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.

This list was generated on Sun Dec 7 13:57:44 2025 CET.
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