Результати пошуку - Chiara Klöckner
- Показ 1 - 3 результатів із 3
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1
The genetic landscape of intellectual disability and epilepsy in adults and the elderly: a systematic genetic work-up of 150 individuals за авторством Pia Zacher, Patrick May, Frank Brandhoff, Tobias Bartolomaeus, Diana Le Duc, Martin Finzel, Anja Heinze, Susanne Horn, Chiara Klöckner, Gudrun Körber, Julia Hentschel, Malgorzata Kalita, Ilona Krey, Marina Nastainczyk-Wulf, Konrad Platzer, Johannes Rebstock, Bernt Popp, Mathias Stiller, Anne‐Christin Teichmann, Rami Abou Jamra, Johannes R. Lemke
Опубліковано 2021Artigo -
2
Loss of Grin2a causes a transient delay in the electrophysiological maturation of hippocampal parvalbumin interneurons за авторством Chad R. Camp, Anna Vlachos, Chiara Klöckner, Ilona Krey, Tue G. Banke, Nima Shariatzadeh, Sarah M. Ruggiero, Peter D. Galer, Kristen Park, Adam Caccavano, Sarah Kimmel, Xiaoqing Yuan, Hongjie Yuan, Ingo Helbig, Tim A. Benke, Johannes R. Lemke, Kenneth A. Pelkey, Chris J. McBain, Stephen F. Traynelis
Опубліковано 2023Artigo -
3
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy за авторством Chiara Klöckner, Heinrich Sticht, Pia Zacher, Bernt Popp, Holly E. Babcock, Dewi P. Bakker, Katy Barwick, Michaela Bonfert, Carsten G. Bönnemann, Eva H. Brilstra, Wendy K. Chung, Angus Clarke, Patrick Devine, Sandra Donkervoort, Jamie L. Fraser, Jennifer Friedman, Alyssa Gates, Jamal Ghoumid, Emma Hobson, Gabriella Horváth, Jennifer Keller‐Ramey, Boris Keren, Manju A. Kurian, Virgina Lee, Kathleen A. Leppig, Johan Lundgren, Marie McDonald, Heather M. McLaughlin, Amy McTague, Heather C. Mefford, Cyril Mignot, Mohamad A. Mikati, Caroline Nava, F. Lucy Raymond, Julian R. Sampson, Alba Sanchis-Juan, Vandana Shashi, Joseph T.C. Shieh, Marwan Shinawi, Anne Slavotinek, Tommy Stödberg, Nicholas Stong, Jennifer A. Sullivan, Ashley C. Taylor, Tomi L. Toler, Marie-José van den Boogaard, Saskia N. van der Crabben, Koen L.I. van Gassen, Richard H. van Jaarsveld, Jessica Van Ziffle, Alexandrea Wadley, Matias Wagner, Kristen Wigby, Saskia B. Wortmann, Yuri A. Zárate, Rikke S. Møller, Johannes R. Lemke, Konrad Platzer
Опубліковано 2020Artigo
Інструменти для пошуку:
Пов'язані теми
Biology
Genetics
Epilepsy
Medicine
Pediatrics
Psychiatry
Copy-number variation
Disease
Electrophysiology
Encephalopathy
Exome
Exome sequencing
Gene
Genetic counseling
Genetic testing
Genome
Inhibitory postsynaptic potential
Intellectual disability
Internal medicine
Interneuron
Ionotropic effect
Medical diagnosis
Medical genetics
NMDA receptor
Neuroscience
Parvalbumin
Pathology
Phenotype
Receptor