檢索結果 - Erik Tilch
- Showing 1 - 5 results of 5
-
1
Targeted Resequencing and Systematic In Vivo Functional Testing Identifies Rare Variants in MEIS1 as Significant Contributors to Restless Legs Syndrome 由 Eva C. Schulte, Maria Kousi, Perciliz L. Tan, Erik Tilch, Felix Knauf, Peter Lichtner, Claudia Trenkwalder, Birgit Högl, Birgit Frauscher, Klaus Berger, Ingo Fietze, Magdolna Hornyak, Wolfgang H. Oertel, Cornelius G. Bachmann, Alexander Zimprich, Annette Peters, Christian Gieger, Thomas Meitinger, Bertram Müller‐Myhsok, Nicholas Katsanis, Juliane Winkelmann
出版 2014Artigo -
2
Episignature analysis of moderate effects and mosaics 由 Konrad Oexle, Michael Zech, Lara G. Stühn, Sandy Siegert, Theresa Brunet, Wolfgang M. Schmidt, Matias Wagner, Axel Schmidt, Hartmut Engels, Erik Tilch, Olivier Monestier, Anne Destrèe, Britta Hanker, Sylvia Boesch, Robert Jech, Riccardo Berutti, Frank J. Kaiser, Bernhard Haslinger, Tobias B. Haack, Barbara Garavaglia, Peter Krawitz, Juliane Winkelmann, Nazanin Mirza‐Schreiber
出版 2023Artigo -
3
Restless Legs Syndrome-associated intronic common variant in <i>Meis1</i> alters enhancer function in the developing telencephalon 由 Derek Spieler, Maria Kaffe, Felix Knauf, José Bessa, Juan J. Tena, Florian Giesert, Barbara Schormair, Erik Tilch, Heekyoung Lee, Marion Horsch, Darina Czamara, Nazanin Karbalai, Christine von Toerne, Mélanie Waldenberger, Christian Gieger, Peter Lichtner, Melina Claussnitzer, Ronald Naumann, Bertram Müller‐Myhsok, Miguel Torres, Lillian Garrett, Jan Rozman, Martin Klingenspor, Valérie Gailus‐Durner, Helmut Fuchs, Martin Hrabě de Angelis, Johannes Beckers, Sabine M. Hölter, Thomas Meitinger, Stefanie M. Hauck, Helmut Laumen, Wolfgang Wurst, Fernando Casares, José Luis Gómez-Skármeta, Juliane Winkelmann
出版 2014Artigo -
4
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia 由 Michael Zech, Ivana Dzinovic, Matěj Škorvánek, Philip Harrer, Ján Necpál, Robert Kopajtich, Volker Kittke, Erik Tilch, Chen Zhao, Eugenia Tsoma, Ugo Sorrentino, Elisabetta Indelicato, A. Stehr, Alice Saparov, Lucia Abela, Miriam Adamovičová, Alexandra Afenjar, Birgit Assmann, Janette Baloghová, Matthias Baumann, Riccardo Berutti, Zuzana Brežná, Melanie Brugger, Theresa Brunet, Benjamin Cogné, Isabel Colangelo, Erin Conboy, Ertan Mayatepek, Matthias Eckenweiler, Barbara Garavaglia, Arie Geerlof, Elisabeth Graf, Annette Hackenberg, Denisa Harvanová, Bernhard Haslinger, Petra Havránková, Georg F. Hoffmann, Wibke G. Janzarik, Boris Keren, Miriam Kolníková, Konstantinos Kolokotronis, Zuzana Košutzká, Anne Koy, Martin Krenn, Magdalena Krygier, Katarína Kušíková, Oliver Maier, Thomas Meitinger, Christian Mertes, Ivan Milenković, Edoardo Monfrini, André Mourão, Thomas Musacchio, Mathilde Nizon, Miriam Ostrožovičová, Martin Pavlov, Iva Příhodová, Irena Rektorová, Luigi Romito, Barbora Rybanska, Ariane Sadr‐Nabavi, Susanne Schwenger, Ali Shoeibi, Alexandra Sitzberger, Dmitrii Smirnov, Jana Svantnerova, Raushana Tautanova, Sandra P. Toelle, Olga Ulmanová, Francesco Vetrini, Katharina Vill, Matias Wagner, David Weise, Giovanna Zorzi, Alessio Di Fonzo, Konrad Oexle, Steffen Berweck, Volker Mall, Sylvia Boesch, Barbara Schormair, Holger Prokisch, Robert Jech, H. Mann
出版 2025Artigo -
5
Identification of novel risk loci for restless legs syndrome in genome-wide association studies in individuals of European ancestry: a meta-analysis 由 Barbara Schormair, Chen Zhao, Steven Bell, Erik Tilch, Aaro V. Salminen, Benno Pütz, Yves Dauvilliers, Ambra Stefani, Birgit Högl, Werner Poewe, David Kemlink, Karel Šonka, Cornelius G. Bachmann, Walter Paulus, Claudia Trenkwalder, Wolfgang H. Oertel, Magdolna Hornyak, Maris Teder‐Laving, Andres Metspalu, Georgios M. Hadjigeorgiou, Olli Polo, Ingo Fietze, Owen A. Ross, Zbigniew K. Wszołek, Adam S. Butterworth, Nicole Soranzo, Willem H. Ouwehand, David J. Roberts, John Danesh, Richard P. Allen, Christopher J. Earley, William G. Ondo, Lan Xiong, Jacques Montplaisir, Ziv Gan‐Or, Markus Perola, Pavel Vodička, Christian Dina, André Franke, Lukas Tittmann, Alexandre F.R. Stewart, Svati H. Shah, Christian Gieger, Annette Peters, Guy A. Rouleau, Klaus Berger, Konrad Oexle, Emanuele Di Angelantonio, David A. Hinds, Bertram Müller‐Myhsok, Juliane Winkelmann, Beverley Balkau, Pierre Ducimetière, Eveline Eschwège, Fanny Rancière, François Alhenc–Gelas, Yves Gallois, A Girault, Frédéric Fumeron, Michel Marre, Ronan Roussel, Fabrice Bonnet, Amélie Bonnefond, Stéphane Cauchi, Philippe Froguel, Joël Cogneau, C. Born, E Cacès, M. Cailleau, Olivier Lantieri, J.G. Moreau, F Rakotozafy, Jean Tichet, Sylviane Vol, Michelle Agee, Babak Alipanahi, Adam Auton, Robert K. Bell, Katarzyna Bryc, Sarah L. Elson, Pierre Fontanillas, Nicholas A. Furlotte, David A. Hinds, Bethann S. Hromatka, Karen E. Huber, Aaron Kleinman, Nadia K. Litterman, Matthew H. McIntyre, Joanna L. Mountain, Carrie A. M. Northover, Steven J. Pitts, J. Fah Sathirapongsasuti, Olga V. Sazonova, Janie F. Shelton, Suyash Shringarpure, Chao Tian, Joyce Y. Tung, Vladimir Vacic, Catherine H. Wilson
出版 2017Revisão
相關主題
Biology
Genetics
Gene
Allele
Bioinformatics
Genome-wide association study
Genotype
Single-nucleotide polymorphism
Genetic association
Locus (genetics)
Medicine
Neuroscience
Phenotype
Allelic heterogeneity
Candidate gene
Computational biology
DNA sequencing
Disease
Dystonia
Enhancer
Exome
Exome sequencing
Exon
Genetic heterogeneity
Genome
Genomics
Haplotype
Internal medicine
Linkage disequilibrium
Loss function