Zobrazeno 1 - 10
of 288
pro vyhledávání: '"Korenke, G."'
Autor:
Döring, Jan H., Schröter, Julian, Jüngling, Jerome, Biskup, Saskia, Klotz, Kerstin A., Bast, Thomas, Dietel, Tobias, Korenke, G. Christoph, Christoph, Sophie, Brennenstuhl, Heiko, Rubboli, Guido, Moller, Rikke S., Lesca, Gaetan, Chaix, Yves, Kölker, Stefan, Hoffmann, Georg F., Lemke, Johannes R., Syrbe, Steffen
Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopat
Externí odkaz:
https://ul.qucosa.de/id/qucosa%3A89542
https://ul.qucosa.de/api/qucosa%3A89542/attachment/ATT-0/
https://ul.qucosa.de/api/qucosa%3A89542/attachment/ATT-0/
Autor:
Ansari, Morad, Faour, Kamli N.W., Shimamura, Akiko, Grimes, Graeme, Kao, Emeline M., Denhoff, Erica R., Blatnik, Ana, Ben-Isvy, Daniel, Wang, Lily, Helm, Benjamin M., Firth, Helen, Breman, Amy M., Bijlsma, Emilia K., Iwata-Otsubo, Aiko, de Ravel, Thomy J.L., Fusaro, Vincent, Fryer, Alan, Nykamp, Keith, Stühn, Lara G., Haack, Tobias B., Korenke, G. Christoph, Constantinou, Panayiotis, Bujakowska, Kinga M., Low, Karen J., Place, Emily, Humberson, Jennifer, Napier, Melanie P., Hoffman, Jessica, Juusola, Jane, Deardorff, Matthew A., Shao, Wanqing, Rockowitz, Shira, Krantz, Ian, Kaur, Maninder, Raible, Sarah, Dortenzio, Victoria, Kliesch, Sabine, Singer-Berk, Moriel, Groopman, Emily, DiTroia, Stephanie, Ballal, Sonia, Srivastava, Siddharth, Rothfelder, Kathrin, Biskup, Saskia, Rzasa, Jessica, Kerkhof, Jennifer, McConkey, Haley, Sadikovic, Bekim, Hilton, Sarah, Banka, Siddharth, Tüttelmann, Frank, Conrad, Donald F., O’Donnell-Luria, Anne, Talkowski, Michael E., FitzPatrick, David R., Boone, Philip M.
Publikováno v:
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Autor:
Schütze, Kerstin, Groß, Miriam, Cornils, Kerstin, Wustrau, Katharina, Schneppenheim, Sonja, Lenhartz, Henning, Korenke, G. Christoph, Janka, Gritta, Ledig, Svea, Müller, Ingo, Ehl, Stephan, Lehmberg, Kai ∗
Publikováno v:
In Blood Advances 25 April 2023 7(8):1531-1535
Autor:
Miceli, Francesco, Millevert, Charissa, Soldovieri, Maria Virginia, Mosca, Ilaria, Ambrosino, Paolo, Carotenuto, Lidia, Schrader, Dewi, Lee, Hyun Kyung, Riviello, James, Hong, William, Risen, Sarah, Emrick, Lisa, Amin, Hitha, Ville, Dorothée, Edery, Patrick, de Bellescize, Julitta, Michaud, Vincent, Van-Gils, Julien, Goizet, Cyril, Willemsen, Marjolein H., Kleefstra, Tjitske, Møller, Rikke S, Bayat, Allan, Devinsky, Orrin, Sands, Tristan, Korenke, G. Christoph, Kluger, Gerhard, Mefford, Heather C., Brilstra, Eva, Lesca, Gaetan, Milh, Mathieu, Cooper, Edward C., Taglialatela, Maurizio, Weckhuysen, Sarah
Publikováno v:
In eBioMedicine July 2022 81
Autor:
Schröder, Simone, Li, Yun, Yigit, Gökhan, Altmüller, Janine, Bader, Ingrid, Bevot, Andrea, Biskup, Saskia, Dreha-Kulaczewski, Steffi, Christoph Korenke, G., Kottke, Raimund, Mayr, Johannes A., Preisel, Martin, Toelle, Sandra P., Wente-Schulz, Sarah, Wortmann, Saskia B., Hahn, Heidi, Boltshauser, Eugen, Uhmann, Anja, Wollnik, Bernd, Brockmann, Knut *
Publikováno v:
In Genetics in Medicine February 2021 23(2):341-351
Autor:
Illsinger, Sabine, Korenke, G. Christoph, Boesch, Sylvia, Nocker, Michael, Karall, Daniela, Nuoffer, Jean M., Laugwitz, Lucia, Mayr, Johannes A., Scholl-Bürgi, Sabine, Freisinger, Peter, Kowald, Tobias, Kölker, Stefan, Prokisch, Holger, Haack, Tobias B.
Publikováno v:
In European Journal of Medical Genetics November 2020 63(11)
Autor:
Zimmermann, Milan, Schuster, Stefanie, Boesch, Sylvia, Korenke, G. Christoph, Mohr, Julia, Reichbauer, Jennifer, Kernstock, Christoph, Kotzot, Dieter, Spahlinger, Veronika, Schüle-Freyer, Rebecca, Schöls, Ludger
Publikováno v:
In Parkinsonism and Related Disorders May 2020 74:6-11
Autor:
Dimitrov, Bianca, Himmelreich, Nastassja, Hipgrave Ederveen, Agnes L., Lüchtenborg, Christian, Okun, Jürgen G., Breuer, Maximilian, Hutter, Anna-Marlen, Carl, Matthias, Guglielmi, Luca, Hellwig, Andrea, Thiemann, Kai Christian, Jost, Markus, Peters, Verena, Staufner, Christian, Hoffmann, Georg F., Hackenberg, Annette, Paramasivam, Nagarajan, Wiemann, Stefan, Eils, Roland, Schlesner, Matthias, Strahl, Sabine, Brügger, Britta, Wuhrer, Manfred, Christoph Korenke, G., Thiel, Christian
Publikováno v:
In Molecular Genetics and Metabolism March 2018 123(3):364-374
Autor:
Mitter, Diana, Pringsheim, Milka, Kaulisch, Marc, Plümacher, Kim Sarah, Schröder, Simone, Warthemann, Rita, Abou Jamra, Rami, Baethmann, Martina, Bast, Thomas, Büttel, Hans-Martin, Cohen, Julie S., Conover, Elizabeth, Courage, Carolina, Eger, Angelika, Fatemi, Ali, Grebe, Theresa A., Hauser, Natalie S., Heinritz, Wolfram, Helbig, Katherine L., Heruth, Marion, Huhle, Dagmar, Höft, Karen, Karch, Stephanie, Kluger, Gerhard, Korenke, G. Christoph, Lemke, Johannes R., Lutz, Richard E., Patzer, Steffi, Prehl, Isabelle, Hoertnagel, Konstanze, Ramsey, Keri, Rating, Tina, Rieß, Angelika, Rohena, Luis, Schimmel, Mareike, Westman, Rachel, Zech, Frank-Martin, Zoll, Barbara, Malzahn, Dörthe, Zirn, Birgit, Brockmann, Knut
Publikováno v:
In Genetics in Medicine January 2018 20(1):98-108
Autor:
Grünert, Sarah Catharina, Schmitt, Robert Niklas, Schlatter, Sonja Marina, Gemperle-Britschgi, Corinne, Balcı, Mehmet Cihan, Berg, Volker, Çoker, Mahmut, Das, Anibh M., Demirkol, Mübeccel, Derks, Terry G.J., Gökçay, Gülden, Uçar, Sema Kalkan, Konstantopoulou, Vassiliki, Christoph Korenke, G., Lotz-Havla, Amelie Sophia, Schlune, Andrea, Staufner, Christian, Tran, Christel, Visser, Gepke, Schwab, Karl Otfried, Fukao, Toshiyuki, Sass, Jörn Oliver
Publikováno v:
In Molecular Genetics and Metabolism September 2017 122(1-2):67-75