Einträge von Hackenberg, Annette auf dem Publikationsserver
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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.
, 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.
, 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.
, 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.
