학술논문
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'학술논문'
에서 검색결과 267건 | 목록
1~20
Academic Journal
Taudien, Jacqueline E.; Bracht, Diana; Olbrich, Heike; Swirski, Sebastian; D'Abrusco, Fulvio; Van der Zwaag, Bert; Möller, Maike; Lücke, Thomas; Teig, Norbert; Lindberg, Ulrika; Wohlgemuth, Kai; Wallmeier, Julia; Blanque, Anja; Gatsogiannis, Christos; George, Sebastian; Jüschke, Christoph; Owczarek-Lipska, Marta; Veer, Dorothee; Kroes, Hester Y.; Valente, Enza Maria; Korenke, G. Christoph; Omran, Heymut; Neidhardt, John
iScience. 28(2)
Academic Journal
Keit Men Wong; Reza Maroofian; Kolja Meier; Susann Diegmann; Tinatin Tkemaladze; Javeria Raza Alvi; Behnoosh Tasharrofi; Stephanie Efthymiou; Alexander Munchau; G. Christoph Korenke; Naif Almontashiri; Wafaa Eyaid; Amna Kashgari; Modhi Alotaibi; Jutta Gärtner; Brenda Huppke; Mostafa Asadollahi; Gocha Chikvinidze; Mohammad Keramatipour; Tipu Sultan; Holger Thiele; Peter Nürnberg; Markus H. Gräler; Henry Houlden; Peter Huppke
Mov Disord
Academic Journal
Asadollahi, Reza; Ahmad, Aisha; Boonsawat, Paranchai; Shahanoor Hinzen, Jasmine; Lohse, Mareike; Bouazza-Arostegui, Boris; Sun, Siqi; Utesch, Tillmann; Sommer, Jonas D.; Ilic, Dragana; Padmanarayana, Murugesh; Fischermanns, Kati; Ranjan, Mrinalini; Boll, Moritz; Ka, Chandran; Piton, Amélie; Mattioli, Francesca; Isidor, Bertrand; Õunap, Katrin; Reinson, Karit; Wojcik, Monica H.; Marshall, Christian R.; Mercimek-Andrews, Saadet; Matsumoto, Naomichi; Miyake, Noriko; Stephan, Bruno de Oliveira; Honjo, Rachel Sayuri; Bertola, Debora R.; Kim, Chong Ae; Yusupov, Roman; Mefford, Heather C.; Christodoulou, John; Lee, Joy; Heath, Oliver; Brown, Natasha J.; Baker, Naomi; Stark, Zornitza; Delatycki, Martin; Lake, Nicole J.; Zeidler, Shimriet; Zuurbier, Linda; Maas, Saskia M.; de Kruiff, Chris C.; Rajabi, Farrah; Rodan, Lance H.; Coury, Stephanie A.; Platzer, Konrad; Oppermann, Henry; Abou Jamra, Rami; Beblo, Skadi; Maxton, Caroline; Śmigiel, Robert; Underhill, Hunter; Dubbs, Holly; Rosen, Alyssa; Helbig, Katherine L.; Helbig, Ingo; Ruggiero, Sarah McKeown; Fitzgerald, Mark P.; Kraemer, Dennis; Prada, Carlos E.; Tenney, Jeffrey; Jayakar, Parul; Redon, Sylvia; Lefranc, Jérémie; Uguen, Kevin; Race, Simone; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Coppens, Sandra; Deconinck, Nicolas; Ashokkumar, Balasubramaniem; Varalakshmi, Perumal; Gowda K, Vykunta Raju; Eghbal, Fatemeh; Ghayoor Karimiani, Ehsan; Heidari, Morteza; Neidhardt, John; Owczarek-Lipska, Marta; Korenke, G. Christoph; Bamshad, Michael J.; Campeau, Philippe M.; Lehman, Anna; Hendon, Laura G.; Wentzensen, Ingrid M.; Monaghan, Kristin G.; Chen, Yanmin; Szuto, Anna; Cohn, Ronald D.; Au, Ping Yee Billie; Hübner, Christoph; Boschann, Felix; Manickam, Kandamurugu; Koboldt, Daniel C.; Rad, Aboulfazl; Oprea, Gabriela; Bachman, Kristine K.; Seeley, Andrea H.; Agolini, Emanuele; Terracciano, Alessandra; Carmelo, Piscopo; Bupp, Caleb; Grysko, Bethany; Rein-Rothschild, Annick; Ben Zeev, Bruria; Margolin, Amy; Morrison, Jennifer; Dagli, Aditi; Stolerman, Elliot; Louie, Raymond J.; Washington, Camerun; Stevens, Servi J. C.; Heijligers, Malou; Alkuraya, Fowzan S.; Lisfeld, Jasmin; Neu, Axel; Paoli Monteiro, Fabíola; Santos Pessoa, André Luiz; Camelo-Filho, Antonio Edvan; Kok, Fernando; Koeberl, Dwight; Riley, Kacie; Burglen, Lydie; Doummar, Diane; Héron, Bénédicte; Mignot, Cyril; Keren, Boris; Charles, Perrine; Nava, Caroline; Bernhard, Felix P.; Kühn, Andrea A.; Thoms, Sven; Morrie, Ryan D.; Mekhoubad, Shila; Green, Eric M.; Barmada, Sami J.; Gitler, Aaron D.; Jahn, Olaf; Rhee, Jeong Seop; Rosenmund, Christian; Mitkovski, Mišo; Sticht, Heinrich; Sun, Han; Le Gac, Gerald; Taschenberger, Holger; Brose, Nils; Dittman, Jeremy S.; Rauch, Anita; Lipstein, Noa
Nature Genetics. :1-14
Academic Journal
Taudien, Jacqueline E. ; Swirski, Sebastian ; Möller, Maike ; Jüschke, Christoph ; Owczarek-Lipska, Marta ; Korenke, G. Christoph ; Neidhardt, John
In Molecular Therapy - Nucleic Acids 9 September 2025 36(3)
Academic Journal
Planas-Serra, Laura ; Rodríguez-Ruiz, Mar ; Anderson, Eric Nathaniel ; Rodríguez-Palmero, Agustí ; Vélez-Santamaria, Valentina ; Schlüter, Agatha ; Verdura, Edgard ; Gereñu, Gorka ; Jiménez-Zúñiga, Andrés ; Iñañez, Alejandro ; Casas, Josefina ; Bech, Joan Josep ; De La Torre, Carolina ; Martínez, Juan José ; Ruiz, Montserrat ; Fourcade, Stéphane ; Iascone, Maria ; Tenconi, Romano ; Meier, Kolja ; Diegmann, Susann ; Lee, Reagan H.C. ; Beland, Bakht ; Mir, Asif ; Darvish, Hossein ; Chung, Wendy ; Karimiani, Ehsan Ghayoor ; Leal, Suzanne M. ; Schrauwen, Isabelle ; Öhman, Susanna ; Järvelä, Irma ; Granvik, Johanna ; Reinson, Karit ; Kurvinen, Elvira ; Õunap, Katrin ; Schwan, Annemarie ; Platzer, Konrad ; Kalayci, Tuğba ; Sharifi, Shahrashoub ; Korenke, G. Christoph ; Houlden, Henry ; Maroofian, Reza ; López de Munaín, Adolfo ; Casasnovas, Carlos ; Pandey, Udai Bhan ; Pujol, Aurora
In The American Journal of Human Genetics 6 November 2025 112(11):2643-2664
Academic Journal
Emily Banks; Vincent Francis; Sheng-Jia Lin; Fares Kharfallah; Vladimir Fonov; Maxime Lévesque; Chanshuai Han; Gopinath Kulasekaran; Marius Tuznik; Armin Bayati; Reem Al-Khater; Fowzan S. Alkuraya; Loukas Argyriou; Meisam Babaei; Melanie Bahlo; Behnoosh Bakhshoodeh; Eileen Barr; Lauren Bartik; Mahmoud Bassiony; Miriam Bertrand; Dominique Braun; Rebecca Buchert; Mauro Budetta; Maxime Cadieux-Dion; Daniel G. Calame; Heidi Cope; Donna Cushing; Stephanie Efthymiou; Marwa Abd Elmaksoud; Huda G. El Said; Tawfiq Froukh; Harinder K. Gill; Joseph G. Gleeson; Laura Gogoll; Elaine S.-Y. Goh; Vykuntaraju K. Gowda; Tobias B. Haack; Mais O. Hashem; Stefan Hauser; Trevor L. Hoffman; Jacob S. Hogue; Akimoto Hosokawa; Henry Houlden; Kevin Huang; Stephanie Huynh; Ehsan G. Karimiani; Silke Kaulfuß; G. Christoph Korenke; Amy Kritzer; Hane Lee; James R. Lupski; Elysa J. Marco; Kirsty McWalter; Arakel Minassian; Berge A. Minassian; David Murphy; Juanita Neira-Fresneda; Hope Northrup; Denis M. Nyaga; Barbara Oehl-Jaschkowitz; Matthew Osmond; Richard Person; Davut Pehlivan; Cassidy Petree; Lynette G. Sadleir; Carol Saunders; Ludger Schoels; Vandana Shashi; Rebecca C. Spillmann; Varunvenkat M. Srinivasan; Paria N. Torbati; Tulay Tos; Undiagnosed Diseases Network; Maha S. Zaki; Dihong Zhou; Christiane Zweier; Jean-François Trempe; Thomas M. Durcan; Ziv Gan-Or; Massimo Avoli; Cesar Alves; Gaurav K. Varshney; Reza Maroofian; David A. Rudko; Peter S. McPherson
Nature Communications, Vol 15, Iss 1, Pp 1-22 (2024)
Academic Journal
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.
In Human Genetics and Genomics Advances 11 April 2024 5(2)
Academic Journal
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
In Blood Advances 25 April 2023 7(8):1531-1535
Academic Journal
Lars Schlotawa; Thomas Dierks; Sophie Christoph; Eva Cloppenburg; Andreas Ohlenbusch; G. Christoph Korenke; Jutta Gärtner
JIMD Rep
JIMD Reports, Vol 49, Iss 1, Pp 48-52 (2019)
JIMD Reports, Vol 49, Iss 1, Pp 48-52 (2019)
Academic Journal
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
In eBioMedicine July 2022 81
Academic Journal
Salter, Claire G.; Cai, Yiying; Lo, Bernice; Helman, Guy; Taylor, Henry; McCartney, Amber; Leslie, Joseph S.; Accogli, Andrea; Zara, Federico; Traverso, Monica; Fasham, James; Lees, Joshua A.; Ferla, Matteo P.; Chioza, Barry A.; Wenger, Olivia; Scott, Ethan; Cross, Harold E.; Crawford, Joanna; Warshawsky, Ilka; Keisling, Matthew; Agamanolis, Dimitris; Ward Melver, Catherine; Cox, Helen; Elawad, Mamoun; Marton, Tamas; Wakeling, Matthew N.; Holzinger, Dirk; Tippelt, Stephan; Munteanu, Martin; Valcheva, Deyana; Deal, Christin; Van Meerbeke, Sara; Walsh Vockley, Catherine; Butte, Manish J.; Acar, Utkucan; van der Knaap, Marjo S.; Korenke, G Christoph; Kotzaeridou, Urania; Balla, Tamas; Simons, Cas; Uhlig, Holm H.; Crosby, Andrew H.; De Camilli, Pietro; Wolf, Nicole I.; Baple, Emma L.; Accogoli, Andrea; Zara, Frederico; Melver, Catherine Ward; Vockley, Catherine Walsh
Brain
Salter, CG , Cai, Y, Lo, B, Helman, G , Taylor, H, McCartney, A, Leslie, J S, Accogli, A, Zara, F, Traverso, M, Fasham, J, Lees, J A, Ferla, M P, Chioza, B A, Wenger, O, Scott, E, Cross, H E, Crawford, J, Warshawsky, I, Keisling, M, Agamanolis, D, Ward Melver, C, Cox, H, Elawad, M, Marton, T, Wakeling, M N, Holzinger, D, Tippelt, S, Munteanu, M, Valcheva, D, Deal, C, van Meerbeke, S, Walsh Vockley, C, Butte, M J, Acar, U, van der Knaap, M S, Korenke , G C, Kotzaeridou, U, Balla, T, Simons, C, Uhlig, H H, Crosby, A H, de Camilli, P, Wolf, N I & Baple, E L 2021, 'Biallelic PI4KA variants cause neurological, intestinal and immunological disease', Brain, vol. 144, no. 12, pp. 3597-3610. https://doi.org/10.1093/brain/awab313
Brain, vol 144, iss 12
Salter, C
Brain, vol 144, iss 12
Academic Journal
Markus, Fenja; Kannengießer, Annika; Näder, Patricia; Atigbire, Paul; Scholten, Alexander; Vössing, Christine; Bültmann, Eva; Korenke, G. Christoph; Owczarek-Lipska, Marta; Neidhardt, John
J Hum Genet
Academic Journal
Zimmermann, Milan ; Schuster, Stefanie ; Boesch, Sylvia ; Korenke, G. Christoph ; Mohr, Julia ; Reichbauer, Jennifer ; Kernstock, Christoph ; Kotzot, Dieter ; Spahlinger, Veronika ; Schüle-Freyer, Rebecca ; Schöls, Ludger
In Parkinsonism and Related Disorders May 2020 74:6-11
Academic Journal
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.
In European Journal of Medical Genetics November 2020 63(11)
Academic Journal
Pauly, Martje G.; Korenke, G. Christoph; Diaw, Sokhna Haissatou; Grözinger, Anne; Cazurro-Gutiérrez, Ana Laura; Pérez-Dueñas, Belén; González Martínez, María Victoria; Macaya Ruiz, Alfons; Serrano Antón, Ana Teresa; Peterlin, Borut; Božović, Ivana Babić; Maver, Ales; Münchau, Alexander; Lohmann, Katja; Universitat Autònoma de Barcelona
Academic Journal
Wong, Keit Men; Maroofian, Reza; Meier, Kolja; Diegmann, Susann; Tkemaladze, Tinatin; Alvi, Javeria Raza; Tasharrofi, Behnoosh; Efthymiou, Stephanie; Munchau, Alexander; Korenke, G. Christoph; Almontashiri, Naif; Eyaid, Wafaa; Kashgari, Amna; Alotaibi, Modhi; Gärtner, Jutta; Huppke, Brenda; Asadollahi, Mostafa; Chikvinidze, Gocha; Keramatipour, Mohammad; Sultan, Tipu; et al
Academic Journal
Ghasemi, Mohammad-Reza; Fateh, Sahand Tehrani; Ben-Mahmoud, Afif; Gupta, Vijay; Stuhn, Lara G.; Lesca, Gaetan; Chatron, Nicolas; Platzer, Konrad; Edery, Patrick; Sadeghi, Hossein; Isidor, Bertrand; Cogne, Benjamin; Schulz, Heidi L.; Krauspe-Stubecke, Ilona; Periyasamy, Radhakrishnan; Nampoothiri, Sheela; Mirfakhraie, Reza; Alijanpour, Sahar; Syrbe, Steffen; Pfeifer, Ulrich; Spranger, Stephanie; Grundmann-Hauser, Kathrin; Haack, Tobias B.; Papadopoulou, Maria T.; da Silva Goncalves, Tayrine; Panagiotakaki, Eleni; Arzimanoglou, Alexis; Tonekaboni, Seyed Hassan; Rossi, Massimiliano; Korenke, G. Christoph; Lacassie, Yves; Jang, Mi-Hyeon; Layman, Lawrence C.; Miryounesi, Mohammad; Kim, Hyung-Goo
Academic Journal
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
Genetics in Medicine. 20:98-108
Academic Journal
Genes. November, 2022, Vol. 13 Issue 11
Academic Journal
Matthias Rath; Stefanie Spiegler; Neetika Nath; Konrad Schwefel; Nataliya Di Donato; Johannes Gerber; G. Christoph Korenke; Yorck Hellenbroich; Ute Hehr; Stephanie Gross; Ulrich Sure; Barbara Zoll; Eberhard Gilberg; Lars Kaderali; Ute Felbor
Mol Genet Genomic Med
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[검색어] Korenke, G. Christoph
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