Search Results - Andrea Bevot

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  1. 1
    Cerebral venous sinus thrombosis and thrombocytopenia due to heparinindependent anti-PF4 antibodies after adenovirus infection

    Cerebral venous sinus thrombosis and thrombocytopenia due to heparinindependent anti-PF4 antibodies after adenovirus infection by Günalp Uzun, Jan Zlamal, Karina Althaus, Andrea Bevot, Florian Hennersdorf, Nina Wolska, Anna Jock, Jan Marco Kern, Vanya Icheva, Sven Poli, Ulrike Ernemann, Andreas Neu, Tamam Bakchoul

    Published 2023
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    Carta
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  2. 2
    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping

    The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping by Felix Marbach, Cecilie F. Rustad, Angelika Rieß, Dejan Đukić, Tzung‐Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter Krawitz, Davor Lessel, Christian Netzer

    Published 2019
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  3. 3
    Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta

    Mutations in SEC24D, Encoding a Component of the COPII Machinery, Cause a Syndromic Form of Osteogenesis Imperfecta by Lutz Garbes, Kyung‐Ho Kim, Angelika Rieß, Heike Hoyer‐Kuhn, Filippo Beleggia, Andrea Bevot, Mi Jeong Kim, Yang Hoon Huh, Hee-Seok Kweon, Ravi Savarirayan, David J. Amor, Purvi M. Kakadia, Tobias Lindig, Karl Oliver Kagan, Jutta Becker, Simeon A. Boyadjiev, Bernd Wollnik, Oliver Semler, Stefan K. Bohlander, Jin Oh Kim, Christian Netzer

    Published 2015
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  4. 4
    Extending the <i>KCNQ2</i> encephalopathy spectrum

    Extending the <i>KCNQ2</i> encephalopathy spectrum by Sarah Weckhuysen, Vanja Ivanović, Rik Hendrickx, Rudy Van Coster, Helle Hjalgrim, Rikke S. Møller, Sabine Grønborg, An‐Sofie Schoonjans, Berten Ceulemans, Sinéad B. Heavin, Christin Eltze, Rita Horváth, Gianluca Casara, Tiziana Pisano, Lucio Giordano, Kevin Rostásy, Edda Haberlandt, Beate Albrecht, Andrea Bevot, Ira Benkel, Steffan Syrbe, Beth Rosen Sheidley, Renzo Guerrini, Annapurna Poduri, Johannes R. Lemke, Simone Mandelstam, Ingrid E. Scheffer, Marco Angriman, Pasquale Striano, Carla Marini, Arvid Suls, Peter De Jonghe

    Published 2013
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  5. 5
    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Published 2016
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  6. 6
    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

    Erratum to: ALG6‐CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies by Éva Morava, Vera Tiemes, Christian Thiel, Nathalie Seta, Pascale de Lonlay, Hans de Klerk, Margot F. Mulder, M. Estela Rubio‐Gozalbo, Gepke Visser, Peter van Hasselt, Dafne D. G. Horovitz, Carolina Fischinger Moura de Souza, Ida Vanessa Döederlein Schwartz, Andrew Green, Mohammed Al‐Owain, Graciella Uziel, Sabine Sigaudy, B. Chabrol, Franc‐Jan van Spronsen, Martin Steinert, Eleni Komini, Donald Wurm, Andrea Bevot, Addelkarim Ayadi, Karin Huijben, Marli Dercksen, Peter Witters, Jaak Jaeken, Gert Matthijs, Dirk J. Lefeber, Ron A. Wevers

    Published 2016
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    Errata/Corrigenda
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  7. 7
    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

    Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia by Ralf A. Husain, Mona Grimmel, Matias Wagner, J. Christopher Hennings, Christian Marx, René G. Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler‐Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C. Kruer, Arnaud Besse, Andy Cheuk‐Him Ng, Diana Chiang, François V. Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K. Huebner, Rebecca Buchert, Stefanie Beck‐Woedl, Amelie J. Müller, Lucia Laugwitz, Thomas Nägele, Zhao‐Qi Wang, Tim M. Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Rieß, Thomas Klopstock, Ulrich Brandl, Christian A. Hübner, Marcus Deschauer, Johannes A. Mayr, Penelope E. Bonnen, Ingeborg Krägeloh‐Mann, Saskia B. Wortmann, Tobias B. Haack

    Published 2020
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  8. 8
    The phenotypic spectrum of <i>SCN8A</i> encephalopathy

    The phenotypic spectrum of <i>SCN8A</i> encephalopathy by Jan Larsen, Gemma L. Carvill, Elena Gardella, Gerhard Kluger, G. Schmiedel, Nina Barišić, Christel Depienne, Eva H. Brilstra, Yuan Mang, Jens Erik Nielsen, Martin Kirkpatrick, David Goudie, Rebecca Goldman, Johanna Jähn, Birgit Jepsen, Deepak Gill, Miriam Döcker, Saskia Biskup, Jacinta M. McMahon, Bobby P.C. Koeleman, M. L. Harris, Kees P. J. Braun, Carolien G. F. de Kovel, Carla Marini, Nicola Specchio, Tania Djémié, Sarah Weckhuysen, Niels Tommerup, M. Troncoso, L. Troncoso, Andrea Bevot, Markus Wolff, Helle Hjalgrim, Renzo Guerrini, Ingrid E. Scheffer, Heather C. Mefford, Rikke S. Møller, Aarno Palotie, Anna-Elina Lehesjoki, Arvid Suls, Bobby P.C. Koeleman, Carla Marini, Christel Depienne, Dana Craiu, Deb K. Pal, Dorota Hoffman‐Zacharska, Eric Leguern, Federico Zara, Felix Rosenow, Hande Çağlayan, Helle Hjalgrim, Hiltrud Muhle, Holger Lerche, Ingo Helbig, Johanna Jähn, Johannes R. Lemke, José M. Serratosa, Kaja Kristine Selmer, Karl Martin Klein, Katalin Štěrbová, Nina Barišić, Padhraig Gormley, Pasquale Striano, Patrick May, Peter De Jonghe, Renzo Guerrini, Rikke S. Møller, Roland Krause, Rudi Balling, Sanjay M. Sisodiya, Sarah von Spiczak, Sarah Weckhuysen, Stéphanie Baulac, Tiina Talvik, Ulrich Stephani, Vladimı́r Komárek, Yvonne G. Weber

    Published 2015
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  9. 9
    Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study

    Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study by Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Emilie Vogt, Daniela Zöller, G. Bernert, Tim Hagenacker, Ulrike Schara‐Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgärtner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats‐Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, Lisa Ameshofer, Bárbara Andres, Daniela Angelova-Toshkina, Daniela Banholzer, Christina Bant, Petra Baum, Sandra Baumann, Ute Baur, Benedikt Becker, Bettina Behring, Julia Bellut, Andrea Bevot, Jasmin Bischofberger, Lisa Bitzan, Bogdan Bjelica, Markus Blankenburg, Sandra Böger, Friederike Bonetti, Anke Bongartz, Svenja Brakemeier, Lisa Bratka, Nathalie Braun, Sarah Braun, Brigitte Brauner, Christa Bretschneider, Nadine Burgenmeister, Bea Burke, Sebahattin Çırak, Andrea Dall, Heike de Vries, Adela Della Marina, Jonas Denecke, Marcus Deschauer, Zylfie Dibrani, Uta Diebold, Lutz Dondit, Jessica Drebes, Joenna Driemeyer, Vladimir Dukic, Matthias Eckenweiler, Mirjam Eminger, Michal Fischer, Cornelia Fischer, Maren Freigang, Philippa Gaiser, Andrea Gangfuß, Stephanie Geitmann, Annette George, Magdalena Gosk-Tomek, Susanne Grinzinger, Kristina Gröning, Martin Groß, Anne‐Katrin Güttsches, Anna Hagenmeyer

    Published 2022
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