학술논문
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'학술논문'
에서 검색결과 87건 | 목록
1~20
Academic Journal
Begemann, Anaïs ; Sticht, Heinrich ; Begtrup, Amber ; Vitobello, Antonio ; Faivre, Laurence ; Banka, Siddharth ; Alhaddad, Bader ; Asadollahi, Reza ; Becker, Jessica ; Bierhals, Tatjana ; Brown, Kathleen E. ; Bruel, Ange-Line ; Brunet, Theresa ; Carneiro, Maryline ; Cremer, Kirsten ; Day, Robert ; Denommé-Pichon, Anne-Sophie ; Dyment, Dave A. ; Engels, Hartmut ; Fisher, Rachel ; Goh, Elaine S. ; Hajianpour, M.J. ; Haertel, Lucia Ribeiro Machado ; Hauer, Nadine ; Hempel, Maja ; Herget, Theresia ; Johannsen, Jessika ; Kraus, Cornelia ; Le Guyader, Gwenaël ; Lesca, Gaetan ; Mau-Them, Frédéric Tran ; McDermott, John Henry ; McWalter, Kirsty ; Meyer, Pierre ; Õunap, Katrin ; Popp, Bernt ; Reimand, Tiia ; Riedhammer, Korbinian M. ; Russo, Martina ; Sadleir, Lynette G. ; Saenz, Margarita ; Schiff, Manuel ; Schuler, Elisabeth ; Syrbe, Steffen ; Van der Ven, Amelie Theresa ; Verloes, Alain ; Willems, Marjolaine ; Zweier, Christiane ; Steindl, Katharina ; Zweier, Markus ; Rauch, Anita
In Genetics in Medicine March 2021 23(3):543-554
Academic Journal
Sonnek, Benedikt ; Döring, Jan Henje ; Mütze, Ulrike ; Schubert-Bast, Susanne ; Bast, Thomas ; Balke, Doreen ; Reuner, Gitta ; Schuler, Elisabeth ; Klabunde-Cherwon, Annick ; Hoffmann, Georg F. ; Kölker, Stefan ; Syrbe, Steffen
In European Journal of Paediatric Neurology January 2021 30:121-127
Academic Journal
Hormos Salimi Dafsari; Celine Deneubourg; Kritarth Singh; Reza Maroofian; Zita Suprenant; Ay Lin Kho; Neil J Ingham; Karen P Steel; Preethi Sheshadri; Franciska Baur; Lea Hentrich; Birgit Gerisch; Mina Zamani; Cesar Alves; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony E. Lang; Michael Harris; Alice Abdelaleem; Saeid Sadeghian; Reza Azizimalamiri; Hamid Galehdari; Gholamreza Shariati; Alireza Sedaghat; Jawaher Zeighami; Daniel Calame; Dana Marafi; Ruizhi Duan; Adrian Boehnke; Gary D. Clark; Jill A. Rosenfeld; Carrie A. Mohila; Dora Steel; Saurabh Chopra; Suvasini Sharma; Nicolai Kohlschmidt; Steffi Patzer; Afshin Saffari; Darius Ebrahimi‐Fakhari; Büşra Eser Çavdartepe; Irene J Chang; Erika Beckman; Renate Peters; Andrew Paul Fennell; Bernice Lo; Luisa Averdunk; Felix Distelmaier; Martina Baethmann; Frances Elmslie; Kairit Joost; Sheela Nampoothiri; Dhanya Yesodharan; Hanna Mandel; Amy Kimball; Antonie D. Kline; Cyril Mignot; Boris Keren; Vincent Laugel; Katrin Õunap; Kalpana Devadathan; Frederique M.C. van Berkestijn; Arpana Silwal; Saskia Koene; Sumit Verma; Mohammed Yousuf Karim; Chahynez Boubidi; Majid Aziz; Gehad ElGhazali; Lauren Mattas; Mohammad Miryounesi; Farzad Hashemi‐Gorji; Shahryar Alavi; Nayereh Nouri; Mehrdad Noruzinia; Saeideh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; Madeleine Joubert; Claire Beneteau; Kyra E. Stuurman; Martina Wilke; Tahsin Stefan Barakat; Homa Tajsharghi; Annarita Scardamaglia; Sadeq Vallian; Semra Hız; Ali Shoeibi; Reza Boostani; Narges Hashemi; Meisam Babaei; Norah Saleh Alsaleh; Julie Porter; Tania Attié‐Bitach; Pauline Marzin; Dorota Wicher; Jessica I. Gold; Elisabeth Schuler; Amna Kashgari; Rakan F. Alanazi; Wafaa Eyaid; Marc Engelen; Mirjam Langeveld; Burkhard Stüve; Yun Li; Gökhan Yigit; Bernd Wollnik; Mariana H.G Monje; Dimitri Krainc; Niccolò E. Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Giovanni Zifarelli; Peter Bauer; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen‐Christoph von Kleist‐Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Rita Carsetti; Carlo Dionisi‐Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Dafsari, H S, Deneubourg, C, Singh, K, Maroofian, R, Suprenant, Z, Kho, A L, Ingham, N J, Steel, K P, Sheshadri, P, Baur, F, Hentrich, L, Gerisch, B, Zamani, M, Alves, C, Siddiqui, A, Dafsari, H S, Salari, M, Lang, A E, Harris, M, Abdelaleem, A, Sadeghian, S, Azizimalamiri, R, Galehdari, H, Shariati, G, Sedaghat, A, Zeighami, J, Calame, D, Marafi, D, Duan, R, Boehnke, A, Clark, G D, Rosenfeld, J A, Mohila, C A, Steel, D, Chopra, S, Sharma, S, Kohlschmidt, N, Patzer, S, Saffari, A, Ebrahimi-Fakhari, D, Çavdartepe, B E, Chang, I J, Beckman, E, Peters, R, Fennell, A P, Lo, B, Averdunk, L, Distelmaier, F, Baethmann, M, Elmslie, F, Joost, K, Nampoothiri, S, Yesodharan, D, Mandel, H, Kimball, A, Kline, A D, Mignot, C, Keren, B, Laugel, V, Õunap, K, Devadathan, K, van Berkestijn, F M C, Silwal, A, Koene, S, Verma, S, Karim, M Y, Boubidi, C, Aziz, M, ElGhazali, G, Mattas, L, Miryounesi, M, Hashemi-Gorji, F, Alavi, S, Nouri, N, Noruzinia, M, Kavousi, S, Kamath, A, Jayawant, S, Saneto, R, Haridy, N A, Kart, P O, Cansu, A, Joubert, M, Beneteau, C, Stuurman, K E, Wilke, M, Barakat, T S, Tajsharghi, H, Scardamaglia, A, Vallian, S, Hız, S, Shoeibi, A, Boostani, R, Hashemi, N, Babaei, M, Alsaleh, N S, Porter, J, Attié-Bitach, T, Marzin, P, Wicher, D, Gold, J I, Schuler, E, Kashgari, A, Alanazi, R F, Eyaid, W, Engelen, M, Langeveld, M, Stüve, B, Li, Y, Yigit, G, Wollnik, B, Monje, M H G, Krainc, D, Mencacci, N E, Bakhtiari, S, Kruer, M, Argilli, E, Sherr, E, Jamshidi, Y, Karimiani, E G, Cheung, Y W S, Karin, I, Zifarelli, G, Bauer, P, Chung, W K, Lupski, J R, Kurian, M A, Dötsch, J, von Kleist-Retzow, J-C, Klopstock, T, Wagner, M, Yip, C, Roos, A, Carsetti, R, Dionisi-Vici, C, Gautel, M, Duchen, M R, Antebi, A, Houlden, H, Fanto, M & Jungbluth, H 2025, 'Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism', Annals of Neurology, vol. 98, no. 5, pp. 932-950. https://doi.org/10.1002/ana.78013
Academic Journal
Gangfuß, Andrea; Goj, Guido; Polz, Silke; Della Marina, Adela; Hentschel, Andreas; Ahlbory, Katja; Deba, Timo; Kotzaeridou, Urania; Schuler, Elisabeth; Pechmann, Astrid; Diebold, Uta; Kurlemann, Gerhard; Heinzkyll, Lucas; Schmitt, Dirk; Rostasy, Kevin; Ruck, Tobias; Böhm, Johann; Roos, Andreas; Schara-Schmidt, Ulrike
Academic Journal
Cuccurullo Claudia; Emanuele Cerulli Irelli; Ugga Lorenzo; Riva, Antonella; D'Amico, Alessandra; Cabet, Sara; Lesca, Gaetan; Bilo, Leonilda; Zara, Federico; Iliescu, Catrinel; Barca, Diana; Fung, France; Helbig, Katherine; Ortiz‐Gonzalez, Xilma; Schelhaas, Helenius J.; Willemsen, Marjolein H.; van der Linden, Inge; Canafoglia, Laura; Courage, Carolina; Gommaraschi, Samuele; Gonzalez‐Alegre, Pedro; Bardakjian, Tanya; Syrbe, Steffen; Schuler, Elisabeth; Lemke, Johannes R.; Vari, Stella; Roende, Gitte; Bak, Mads; Huq, Mahbulul; Powis, Zoe; Johannesen, Katrine M.; Hammer, Trine Bjørg; Møller, Rikke S.; Rabin, Rachel; Pappas, John; Zupanc, Mary L.; Zadeh, Neda; Cohen, Julie; Naidu, Sakkubai; Krey, Ilona; Saneto, Russell; Thies, Jenny; Licchetta, Laura; Tinuper, Paolo; Bisulli, Francesca; Minardi, Raffaella; Bayat, Allan; Villeneuve, Nathalie; Molinari, Florence; Salimi Dafsari, Hormos; Moller, Birk; Leundefined; Roux, Marie; Houdayer, Clara; Vecchi, Marilena; Mammi, Isabella; Fiorini, Elena; Proietti, Jacopo; Ferri, Sofia; Cantalupo, Gaetano; Battaglia, Domenica Immacolata; Gambardella, Maria Luigia; Contaldo, Ilaria; Brogna, Claudia; Trivisano, Marina; Deundefined; Dominicis, Angela; Bova, Stefania Maria; Gardella, Elena; Striano, Pasquale; Coppola, Antonietta
Epilepsia, 65, 9, pp. 2728-2750
Academic Journal
Schnabel, Franziska; Schuler, Elisabeth; Al-Maawali, Almundher; Chaurasia, Ankur; Syrbe, Steffen; Al-Kindi, Adila; Bhavani, Gandham SriLakshmi
Human Genetics. April, 2023, Vol. 142 Issue 4, p543, 10 p.
Academic Journal
Martinez-Lizana, Eva; Fauser, Susanne; Brandt, Armin; Schuler, Elisabeth; Wiegand, Gert; Doostkam, Soroush; San Antonio-Arce, Victoria; Jacobs, Julia; Bast, Thomas; Shah, Mukesch; Zentner, Josef; Schulze-Bonhage, Andreas
Seizure: European Journal of Epilepsy. 62:66-73
Academic Journal
Caries Research. November 1, 2019, Vol. 53 Issue 6, p659, 8 p.
Academic Journal
Caries Research. November 1, 2019, Vol. 53 Issue 6, p609, 8 p.
Academic Journal
Caries Research. July 1, 2019, Vol. 53 Issue 5, p527, 5 p.
Academic Journal
Perez-Dueñas, Belen; Ortigoza-Escobar, Juan Dario; Marti-Sanchez, Laura; Molero-Luis, Marta; Aviles, Carles; Baide, Heidy; Muchart, Jordi; Rebollo, Monica; Crow, Yannick J.; Cabrera-Lopez, J.C.; Madruga-Garrido, Marcos; Alonso-Luengo, Olga; Quijada-Fraile, Pilar; Martin-Hernandez, Elena; Garcia-Silva, Maria Teresa; Cerisola, Alfredo; Velazquez-Fragua, Ramon; Schuler, Elisabeth; Lopez-Laso, Eduardo; Gutierrez Solana, L.G.
In European Journal of Paediatric Neurology June 2017 21 Supplement 1:e161-e161
Academic Journal
XiangWei, Wenshu; Kannan, Varun; Xu, Yuchen; Kosobucki, Gabrielle J; Schulien, Anthony J; Kusumoto, Hirofumi; Achkar, Christelle Moufawad El; Bhattacharya, Subhrajit; Lesca, Gaetan; Nguyen, Sylvie; Helbig, Katherine L; Cuisset, Jean-Marie; Fenger, Christina Dühring; Marjanovic, Dragan; Schuler, Elisabeth; Wu, Ye; Bao, Xinhua; Zhang, Yuehua; Dirkx, Nina; Schoonjans, An-Sofie
Academic Journal
Butler, Kameryn M; Moody, Olivia A; Schuler, Elisabeth; Coryell, Jason; Alexander, John J; Jenkins, Andrew; Escayg, Andrew
Academic Journal
Ortigoza‐Escobar, Juan Darío; Alfadhel, Majid; Molero‐Luis, Marta; Darin, Niklas; Spiegel, Ronen; de Coo, Irenaeus F.; Gerards, Mike; Taylor, Robert W.; Artuch, Rafael; Nashabat, Marwan; Rodríguez‐Pombo, Pilar; Tabarki, Brahim; Pérez‐Dueñas, Belén; Distelmaier, Felix; Hahn, Andreas; Morava, Eva; Banka, Siddharth; Debs, Rabab; Fraser, Jamie L.; Isohanni, Pirjo; Lähdesmäki, Tuire; Livingston, John; Nadjar, Yann; Schuler, Elisabeth; Uusimaa, Johanna; Vanderver, Adeline; Friedman, Jennifer R.; Zimbric, Michael R.; McFarland, Robert; Santra, Saikat; Wassmer, Evangeline; Martí‐Sanchez, Laura; Darling, Alejandra
Annals of Neurology. Sep 01, 2017 82(3):317-330
Academic Journal
In Tetrahedron Letters 2001 42(31):5331-5334
Academic Journal
Zeitschrift für Epileptologie; Aug2016, Vol. 29 Issue 3, p168-172, 5p
Academic Journal
Sierwald, Ira; John, Mike; Sagheri, Darius; Neuschulz, Julia; Schüler, Elisabeth; Splieth, Christian; Jost-Brinkmann, Paul-Georg; Reissmann, Daniel
Academic Journal
Gangfuss, Andrea; Goj, Guido; Polz, Silke; Della Marina, Adela; Ahlbory, Katja; Deba, Timo; Kotzaeridou, Urania; Schuler, Elisabeth; Pechmann, Astrid; Diebold, Uta; Kurlemann, Gerd; Rostasy, Kevin; Heinzkyll, Lukas; Schmitt, Dirk; Boehm, Johann; Koelbel, Heike; Roos, Andreas; Schara-Schmidt, Ulrike
Academic Journal
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