Items where Author is "Hackenberg, Annette"

Article

Groeneweg, Stefan and van Geest, Ferdy S. and Martin, Mariano and Dias, Mafalda and Frazer, Jonathan and Medina-Gomez, Carolina and Sterenborg, Rosalie B. T. M. and Wang, Hao and Dolcetta-Capuzzo, Anna and de Rooij, Linda J. and Teumer, Alexander and Abaci, Ayhan and van den Akker, Erica L. T. and Ambegaonkar, Gautam P. and Armour, Christine M. and Bacos, Iiuliu and Bakhtiani, Priyanka and Barca, Diana and Bauer, Andrew J. and van den Berg, Sjoerd A. A. and van den Berge, Amanda and Bertini, Enrico and van Beynum, Ingrid M. and Brunetti-Pierri, Nicola and Brunner, Doris and Cappa, Marco and Cappuccio, Gerarda and Castellotti, Barbara and Castiglioni, Claudia and Chatterjee, Krishna and Chesover, Alexander and Christian, Peter and van der Spek, Jet and de Coo, Irenaeus F. M. and Coutant, Regis and Craiu, Dana and Crock, Patricia and Degoede, Christian and Demir, Korcan and Dewey, Cheyenne and Dica, Alice and Dimitri, Paul and Dremmen, Marjolein H. G. and Dubey, Rachana and Enderli, Anina and Fairchild, Jan and Gallichan, Jonathan and Garibaldi, Luigi and George, Belinda and Gevers, Evelien F. and Greenup, Erin and Hackenberg, Annette and Halasz, Zita and Heinrich, Bianka and Hurst, Anna C. and Huynh, Tony and Isaza, Amber R. and Klosowska, Anna and van der Knoop, Marieke M. and Konrad, Daniel and Koolen, David A. and Krude, Heiko and Kulkarni, Abhishek and Laemmle, Alexander and Lafranchi, Stephen H. and Lawson-Yuen, Amy and Lebl, Jan and Leeuwenburgh, Selmar and Linder-Lucht, Michaela and Lopez Marti, Anna and Lorea, Claudia F. and Lourenco, Charles M. and Lunsing, Roelineke J. and Lyons, Greta and Malikova, Jana Krenek and Mancilla, Edna E. and Mccormick, Kenneth L. and Mcgowan, Anne and Mericq, Veronica and Lora, Felipe Monti and Moran, Carla and Muller, Katalin E. and Nicol, Lindsey E. and Oliver-Petit, Isabelle and Paone, Laura and Paul, Praveen G. and Polak, Michel and Porta, Francesco and Poswar, Fabiano O. and Reinauer, Christina and Rozenkova, Klara and Seckold, Rowen and Seven Menevse, Tuba and Simm, Peter and Simon, Anna and Singh, Yogen and Spada, Marco and Stals, Milou A. M. and Stegenga, Merel T. and Stoupa, Athanasia and Subramanian, Gopinath M. and Szeifert, Lilla and Tonduti, Davide and Turan, Serap and Vanderniet, Joel and van der Walt, Adri and Wemeau, Jean-Louis and van Wermeskerken, Anne-Marie and Wierzba, Jolanta and de Wit, Marie-Claire Y. and Wolf, Nicole I. and Wurm, Michael and Zibordi, Federica and Zung, Amnon and Zwaveling-Soonawala, Nitash and Rivadeneira, Fernando and Meima, Marcel E. and Marks, Debora S. and Nicola, Juan P. and Chen, Chi-Hua and Medici, Marco and Visser, W. Edward (2025) Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration. NATURE COMMUNICATIONS, 16 (1): 2479. ISSN , 2041-1723

Groeneweg, Stefan and van Geest, Ferdy S. and Abaci, Ayhan and Alcantud, Alberto and Ambegaonkar, Gautem P. and Armour, Christine M. and Bakhtiani, Priyanka and Barca, Diana and Bertini, Enrico S. and van Beynum, Ingrid M. and Brunetti-Pierri, Nicola and Bugiani, Marianna and Cappa, Marco and Cappuccio, Gerarda and Castellotti, Barbara and Castiglioni, Claudia and Chatterjee, Krishna and de Coo, Irenaeus F. M. and Coutant, Regis and Craiu, Dana and Crock, Patricia and DeGoede, Christian and Demir, Korcan and Dica, Alice and Dimitri, Paul and Dolcetta-Capuzzo, Anna and Dremmen, Marjolein H. G. and Dubey, Rachana and Enderli, Anina and Fairchild, Jan and Gallichan, Jonathan and George, Belinda and Gevers, Evelien F. and Hackenberg, Annette and Halasz, Zita and Heinrich, Bianka and Huynh, Tony and Klosowska, Anna and van der Knaap, Marjo S. and van der Knoop, Marieke M. and Konrad, Daniel and Koolen, David A. and Krude, Heiko and Lawson-Yuen, Amy and Lebl, Jan and Linder-Lucht, Michaela and Lorea, Claudia F. and Lourenco, Charles M. and Lunsing, Roelineke J. and Lyons, Greta and Malikova, Jana and Mancilla, Edna E. and McGowan, Anne and Mericq, Veronica and Lora, Felipe M. and Moran, Carla and Mueller, Katalin E. and Oliver-Petit, Isabelle and Paone, Laura and Paul, Praveen G. and Polak, Michel and Porta, Francesco and Poswar, Fabiano O. and Reinauer, Christina and Rozenkova, Klara and Menevse, Tuba S. and Simm, Peter and Simon, Anna and Singh, Yogen and Spada, Marco and van der Spek, Jet and Stals, Milou A. M. and Stoupa, Athanasia and Subramanian, Gopinath M. and Tonduti, Davide and Turan, Serap and den Uil, Corstiaan A. and Vanderniet, Joel and van der Walt, Adri and Wemeau, Jean-Louis and Wierzba, Jolante and de Wit, Marie-Claire Y. and Wolf, Nicole and Wurm, Michael and Zibordi, Federica and Zung, Amnon and Zwaveling-Soonawala, Nitash and Visser, W. Edward (2020) Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study. LANCET DIABETES & ENDOCRINOLOGY, 8 (7). pp. 594-605. ISSN 2213-8587, 2213-8595

Zech, Michael and Jech, Robert and Boesch, Sylvia and Skorvanek, Matej and Weber, Sandrina and Wagner, Matias and Zhao, Chen and Jochim, Angela and Necpal, Jan and Dincer, Yasemin and Vill, Katharina and Disteimaier, Felix and Stoklosa, Malgorzata and Krenn, Martin and Grunwald, Stephan and Bock-Bierbaum, Tobias and Fecikova, Anna and Havrankova, Petra and Roth, Jan and Prihodova, Iva and Adamovicova, Miriam and Ulmanova, Olga and Bechyne, Karel and Danhofer, Pavlina and Vesely, Branislav and Han, Vladimir and Pavelekova, Petra and Gdovinova, Zuzana and Mantel, Tobias and Meindl, Tobias and Sitzberger, Alexandra and Schroeder, Sebastian and Blaschek, Astrid and Roser, Timo and Bonfert, Michaefa and Haberlandt, Edda and Plecko, Barbara and Leineweber, Birgit and Berweck, Steffen and Herberhold, Thomas and Langguth, Berthold and Svantnerova, Jana and Minar, Michal and Ramos-Rivera, Gonzalo Alonso and Wojcik, Monica H. and Pajusalu, Sander and Ounap, Katrin and Schatz, Ulrich A. and Poelsler, Laura and Milenkovic, Ivan and Laccone, Franco and Pilhofer, Veronika and Colombo, Roberto and Patzer, Steffi and Iuso, Arcangela and Vera, Julia and Troncoso, Monica and Fang, Fang and Prokisch, Holger and Wilbert, Friederike and Eckenweiler, Matthias and Graf, Elisabeth and Westphal, Dominik S. and Riedhammer, Korbinian M. and Brunet, Theresa and Alhaddad, Bader and Berutti, Riccardo and Strom, Tim M. and Hecht, Martin and Baumann, Matthias and Wolf, Marc and Telegrafi, Aida and Person, Richard E. and Zamora, Francisca Milian and Henderson, Lindsay B. and Weise, David and Musacchio, Thomas and Volkmann, Jens and Szuto, Anna and Becker, Jessica and Cremer, Kirsten and Sycha, Thomas and Zimprich, Fritz and Kraus, Verena and Makowski, Christine and Gonzalez-Alegre, Pedro and Bardakjian, Tanya M. and Ozelius, Laurie J. and Vetro, Annafisa and Guerrini, Renzo and Maier, Esther and Borggraefe, Ingo and Kuster, Alice and Wortmann, Saskia B. and Hackenberg, Annette and Steinfeld, Robert and Assmann, Birgit and Staufner, Christian and Opladen, Thomas and Ruzicka, Evzen and Cohn, Ronald D. and Dyment, David and Chung, Wendy K. and Engels, Hartmut and Ceballos-Baumann, Andres and Ploski, Rafai and Daumke, Ofiver and Haslinger, Bernhard and Mall, Volker and Oexle, Konrad and Winkelmann, Juliane (2020) Monogenic variants in dystonia: an exome-wide sequencing study. LANCET NEUROLOGY, 19 (11). pp. 908-918. ISSN 1474-4422, 1474-4465

Romaniello, Romina and Arrigoni, Filippo and Panzeri, Elena and Poretti, Andrea and Micalizzi, Alessia and Citterio, Andrea and Bedeschi, Maria Francesca and Berardinelli, Angela and Cusmai, Margherita and D'Arrigo, Stefano and Ferraris, Alessandro and Hackenberg, Annette and Kuechler, Alma and Mancardi, Margherita and Nuovo, Sara and Oehl-Jaschkowitz, Barbara and Rossi, Andrea and Signorini, Sabrina and Tuettelmann, Frank and Wahl, Dagmar and Hehr, Ute and Boltshauser, Eugen and Bassi, Maria Teresa and 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. ISSN 0938-7994, 1432-1084

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Romaniello, Romina and Arrigoni, Filippo and Panzeri, Elena and Poretti, Andrea and Micalizzi, Alessia and Citterio, Andrea and Bedeschi, Maria Francesca and Berardinelli, Angela and Cusmai, Raffaella and D'Arrigo, Stefano and Ferraris, Alessandro and Hackenberg, Annette and Kuechler, Alma and Mancardi, Margherita and Nuovo, Sara and Oehl-Jaschkowitz, Barbara and Rossi, Andrea and Signorini, Sabrina and Tuettelmann, Frank and Wahl, Dagmar and Hehr, Ute and Boltshauser, Eugen and Bassi, Maria Teresa and Valente, Enza Maria and Borgatti, Renato (2017) Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation (vol 27, pg 5080, 2017). [["eprint_typename_proceeding" not defined]]