检索结果 - Ingo Borggraefe
- Showing 1 - 20 results of 24
- Go to Next Page
-
1
-
2
-
3
-
4
-
5
-
6
Impact on Clinical Decision Making of Next-Generation Sequencing in Pediatric Epilepsy in a Tertiary Epilepsy Referral Center 由 Hannes Hoelz, Christian Herdl, Lucia Gerstl, Moritz Tacke, Katharina Vill, Celina von Stuelpnagel, Imma Rost, Konstanze Hoertnagel, Angela Abicht, Sebastian Hollizeck, Line H.G. Larsen, Ingo Borggraefe
出版 2019Artigo -
7
Haploinsufficiency of KMT2B, Encoding the Lysine-Specific Histone Methyltransferase 2B, Results in Early-Onset Generalized Dystonia 由 Michael Zech, Sylvia Boesch, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Franco Laccone, Veronika Pilshofer, Andrés Ceballos-Baumann, Bader Alhaddad, Riccardo Berutti, Werner Poewe, Tobias B. Haack, Bernhard Haslinger, Tim M. Strom, Juliane Winkelmann
出版 2016Artigo -
8
Epilepsy surgery in early infancy: A retrospective, multicenter study 由 Konstantin L. Makridis, Kerstin Alexandra Klotz, Georgia Ramantani, Lena‐Luise Becker, Victoria San Antonio‐Arce, Steffen Syrbe, Kathrin Wagner, Mukesch Shah, Ulrich‐Wilhelm Thomale, Anna Tietze, Christian E. Elger, Ingo Borggraefe, Angela M. Kaindl
出版 2023Artigo -
9
First detected geographical cluster of BoDV-1 encephalitis from same small village in two children: therapeutic considerations and epidemiological implications 由 Leonie Grosse, Victoria Lieftüchter, Yannik Vollmuth, Florian Hoffmann, Martin Olivieri, Karl Reiter, Moritz Tacke, Florian Heinen, Ingo Borggraefe, Andreas Osterman, Maria Forstner, Johannes Hübner, Ulrich von Both, Lena Birzele, Meino Rohlfs, Adrian Schomburg, Merle M. Böhmer, Viktoria Ruf, Dániel Cadar, Birgit Muntau, Kirsten Pörtner, Dennis Tappe
出版 2023Artigo -
10
Antisense oligonucleotide treatment in a preterm infant with early-onset SCN2A developmental and epileptic encephalopathy 由 Matias Wagner, Géza Berecki, Walid Fazeli, Claudia Nußbaum, Andreas W. Flemmer, Silvana Frizzo, F. Heer, Florian Heinen, Robert Horton, Henry Jacotin, WILLIAM G. MOTEL, Brian D. Spar, Christoph Klein, Corinna Siegel, Christoph Hübener, Sophia Stöcklein, Marco Paolini, Martin Staudt, Moritz Tacke, Markus Wolff, Steven Petrou, Marcio Souza, Ingo Borggraefe
出版 2025Artigo -
11
Human TGF-β1 deficiency causes severe inflammatory bowel disease and encephalopathy 由 Daniel Kotlarz, Benjamin Marquardt, Tuva Barøy, Way Seah Lee, Liza Konnikova, Sebastian Hollizeck, Thomas Magg, Anna S. Lehle, Christoph Walz, Ingo Borggraefe, Fabian Hauck, Philip Bufler, Raffaele Conca, Sarah Wall, Eva Schumacher, Doriana Misceo, Eirik Frengen, Beint S. Bentsen, Holm H. Uhlig, Karl‐Peter Hopfner, Aleixo M. Muise, Scott B. Snapper, Petter Strømme, Christoph Klein
出版 2018Carta -
12
Real-life survey of pitfalls and successes of precision medicine in genetic epilepsies 由 Simona Balestrini, Daniela Chiarello, Μαρία Γώγου, Katri Silvennoinen, Clinda Puvirajasinghe, Wendy D. Jones, Philipp S. Reif, Karl Martin Klein, Felix Rosenow, Yvonne G. Weber, Holger Lerche, Susanne Schubert‐Bast, Ingo Borggraefe, Antonietta Coppola, Serena Troisi, Rikke S. Møller, Antonella Riva, Pasquale Striano, Federico Zara, Cheryl Hemingway, Carla Marini, Anna Rosati, Davide Mei, Martino Montomoli, Renzo Guerrini, J. Helen Cross, Sanjay M. Sisodiya
出版 2021Artigo -
13
Blood DNA methylation provides an accurate biomarker of <i>KMT2B</i>-related dystonia and predicts onset 由 Nazanin Mirza‐Schreiber, Michael Zech, Rory Wilson, Theresa Brunet, Matias Wagner, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Ján Necpál, David Weise, Sandrina Weber, Brit Mollenhauer, Claudia Trenkwalder, Esther M. Maier, Ingo Borggraefe, Katharina Vill, Annette Hackenberg, Veronika Pilshofer, Urania Kotzaeridou, Eva Maria Christina Schwaibold, Julia Hoefele, Mélanie Waldenberger, Christian Gieger, Annette Peters, Thomas Meitinger, Barbara Schormair, Juliane Winkelmann, Konrad Oexle
出版 2021Artigo -
14
<i>De novo</i> variants in neurodevelopmental disorders—experiences from a tertiary care center 由 Theresa Brunet, Robert Jech, Melanie Brugger, Reka Kovacs, Bader Alhaddad, Gloria Leszinski, Korbinian M. Riedhammer, Dominik S. Westphal, Isabella Mahle, Katharina Mayerhanser, Matěj Škorvánek, Sandrina Weber, Elisabeth Graf, Riccardo Berutti, Ján Necpál, Petra Havránková, Petra Pavelekova, Maja Hempel, Urania Kotzaeridou, Georg F. Hoffmann, Steffen Leiz, Christine Makowski, Timo Roser, A. Sebastian Schroeder, Robert Steinfeld, Gertrud Strobl‐Wildemann, Julia Hoefele, Ingo Borggraefe, Felix Distelmaier, Tim M. Strom, Juliane Winkelmann, Thomas Meitinger, Michael Zech, Matias Wagner
出版 2021Artigo -
15
SYT1-associated neurodevelopmental disorder: a case series 由 Kate Baker, Sarah L. Gordon, Holly Melland, Fabian Bumbak, Daniel J. Scott, Tess J Jiang, David J. Owen, Bradley J. Turner, Stewart Boyd, Mari Rossi, Mohammed Al‐Raqad, Orly Elpeleg, Dawn Peck, Grazia M.S. Mancini, Martina Wilke, Marcella Zollino, Giuseppe Marangi, Heike Weigand, Ingo Borggraefe, Tobias B. Haack, Zornitza Stark, Simon Sadedin, Tiong Yang Tan, Yunyun Jiang, Richard A. Gibbs, Sara Ellingwood, Michelle D. Amaral, Whitley V. Kelley, Manju A. Kurian, Michael A. Cousin, F. Lucy Raymond
出版 2018Artigo -
16
Real‐world data on cannabidiol treatment of various epilepsy subtypes: A retrospective, multicenter study 由 Fabienne Kühne, Lena‐Luise Becker, Thomas Bast, Astrid Bertsche, Ingo Borggraefe, Christian M. Boßelmann, J. Fahrbach, Christoph Hertzberg, Nina A. Herz, Martin Hirsch, Martin Holtkamp, Christine Janello, Gerhard Kluger, Gerhard Kurlemann, Holger Lerche, Konstantin L. Makridis, Felix von Podewils, Milka Pringsheim, Susanne Schubert‐Bast, Juliane Schulz, Andreas Schulze‐Bonhage, David Steinbart, Bernhard J. Steinhoff, Adam Strzelczyk, Steffen Syrbe, Heike de Vries, C. N. J. Wagner, Johanna Wagner, Bernd Wilken, Christine Prager, Kerstin Alexandra Klotz, Angela M. Kaindl
出版 2023Artigo -
17
Neurodevelopmental Disorders Caused by De Novo Variants in <i>KCNB1 </i>Genotypes and Phenotypes 由 Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek, Bronwyn Kerr, Holly Dubbs, Allan Bayat, Sonal Desai, Sakkubai Naidu, Siddharth Srivastava, Hande Cagaylan, Uluç Yiş, Carol Saunders, Martin B. Rook, Susanna Plugge, Hiltrud Muhle, Zaid Afawi, Karl Martin Klein, Vijayakumar Jayaraman, Ramakrishnan Rajagopalan, Ethan M. Goldberg, Eric D. Marsh, Sudha Kilaru Kessler, Christina Bergqvist, Laura K. Conlin, Bryan L. Krok, Isabelle Thiffault, Manuela Pendziwiat, Ingo Helbig, Tilman Polster, Ingo Borggraefe, Johannes R. Lemke, Marie-José van den Boogaardt, Rikke S. Møller, Bobby P.C. Koeleman
出版 2017Artigo -
18
The updated European Consensus 2009 on the use of Botulinum toxin for children with cerebral palsy 由 Florian Heinen, Kaat Desloovere, A. Sebastian Schroeder, Steffen Berweck, Ingo Borggraefe, Anja Van Campenhout, Guro L. Andersen, Resa Aydın, Jules G. Becher, G. Bernert, Ignacio Martínez-Caballero, Lucinda Carr, Emmanuelle Chaléat-Valayer, M.T. Desiato, Charlie Fairhurst, Paul Filipetti, Ralph-Ingo Hassink, Ulf Hustedt, Marek Jóźwiak, Serdar Koçer, Elisabeth Kolanowski, Ingeborg Krägeloh‐Mann, Şehim Kutlay, Helena Mäenpää, Volker Mall, Paul McArthur, Edith Morel, Antigone S. Papavassiliou, Samuel Ignacio Pascual Pascual, Søren Anker Pedersen, Frank Plasschaert, Irene van der Ploeg, Olivier Rémy‐Néris, Anne Renders, Guiseppe Di Rosa, Maja Steinlin, Kristina Tedroff, J. Valls, Elke Viehweger, Guy Molenaers
出版 2009Revisão -
19
Mutations in <i>GABRB3</i> 由 Rikke S. Møller, Thomas V. Wuttke, Ingo Helbig, Carla Marini, Katrine M. Johannesen, Eva H. Brilstra, Ulvi Vaher, Ingo Borggraefe, Inga Talvik, Tiina Talvik, Gerhard Kluger, Laurence Lion François, Gaëtan Lesca, Julitta de Bellescize, Susanne Blichfeldt, Nicolas Chatron, Nils Holert, Julia Jacobs, Mariëlle E.M. Swinkels, Cornelia Betzler, Steffen Syrbe, Marina Nikanorova, Candace T. Myers, Line H.G. Larsen, Sabina Vejzovic, Manuela Pendziwiat, Sarah von Spiczak, Sarah Hopkins, Holly Dubbs, Yuan Mang, К. Yu. Мukhin, Hans Holthausen, Koen L.I. van Gassen, Hans A. Dahl, Niels Tommerup, Heather C. Mefford, Guido Rubboli, Renzo Guerrini, Johannes R. Lemke, Holger Lerche, Hiltrud Muhle, Snezana Maljevic
出版 2017Artigo -
20
Genetic and neurodevelopmental spectrum of<i>SYNGAP1</i>-associated intellectual disability and epilepsy 由 Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaëtan Lesca, Agnès Rastetter, Benoît Gachet, Yannick Marie, Georg Christoph Korenke, Ingo Borggraefe, Dorota Hoffman‐Zacharska, Elżbieta Szczepanik, Mariola Rudzka‐Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Rieß, Stefanie Beck‐Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, М. Б. Миронов, M. Yu. Bobylоva, К. Yu. Мukhin, Laura Hernandez‐Hernandez, Bridget H. Maher, Sanjay M. Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T. Myers, Heather C. Mefford, Konstanze Hörtnagel, Saskia Biskup, Johannes R. Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne
出版 2016Artigo
相关主题
Medicine
Biology
Genetics
Psychiatry
Pediatrics
Gene
Internal medicine
Epilepsy
Phenotype
Disease
Mutation
Neuroscience
Physical medicine and rehabilitation
Psychology
Cerebral palsy
Dystonia
Immunology
Missense mutation
Pathology
Physical therapy
Retrospective cohort study
Surgery
Anticonvulsant
Bioinformatics
Chemistry
Cohort
Environmental health
Epilepsy syndromes
Exome sequencing
Family medicine