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'학술논문'
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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
The Thoracic and Cardiovascular Surgeon. 73:S77-S103
Academic Journal
Morassutti Vitale, Federico; Wieprecht, Jennifer; Baethmann, Maren; Gomes, Delphina; Tengler, Anja; Riley, Roxana; Shamas, Samar; Müller, Marcel; Mandilaras, Guido; Manai, Simone Katrin; Jaros, Maria; Haas, Nikolaus Alexander; Schrader, Meike
Children. August, 2025, Vol. 12 Issue 8
Academic Journal
Wieprecht, Jennifer; Gomes, Delphina; Morassutti Vitale, Federico; Manai, Simone Katrin; Shamas, Samar; Müller, Marcel; Baethmann, Maren; Tengler, Anja; Riley, Roxana; Mandilaras, Guido; Haas, Nikolaus Alexander; Schrader, Meike
Children. May, 2025, Vol. 12 Issue 5
Academic Journal
Schrader, Meike; Wieprecht, Jennifer; Vitale, Federico Morassutti; Manai, Simone Katrin; Shamas, Samar; Müller, Marcel; Baethmann, Maren; Tengler, Anja; Riley, Roxana; Mandilaras, Guido; Haas, Nikolaus Alexander; Gomes, Delphina
Children. April, 2025, Vol. 12 Issue 4
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 Alvares; Ata Siddiqui; Haidar S Dafsari; Mehri Salari; Anthony 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; Carrie 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; Hannah 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; Saeedeh Kavousi; Arveen Kamath; Sandeep Jayawant; Russell Saneto; Nourelhoda A. Haridy; Pinar Ozkan Kart; Ali Cansu; 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 Lander; Tania Attié-Bitach; Pauline Marzin; Dorota Wicher; Jessica I Gold; Mariana H G Monje; Dimitri Krainc; Niccolò Mencacci; Somayeh Bakhtiari; Michael Kruer; Emanuela Argilli; Elliott Sherr; Yalda Jamshidi; Ehsan Ghayoor Karimiani; Yiu Wing Sunny Cheung; Ivan Karin; Wendy K Chung; James R. Lupski; Manju A. Kurian; Jörg Dötsch; Jürgen-Christoph von Kleist-Retzow; Thomas Klopstock; Matias Wagner; Calvin Yip; Andreas Roos; Carlo Dionisi-Vici; Mathias Gautel; Michael R Duchen; Adam Antebi; Henry Houlden; Manolis Fanto; Heinz Jungbluth
Academic Journal
Rechtsmedizin: Organ der Deutschen Gesellschaft fuer Rechtsmedizin. October 2000 10(5):186-186
Academic Journal
Pringsheim, Milka; Mitter, Diana; Schröder, Simone; Warthemann, Rita; Plümacher, Kim; Kluger, Gerhard; Baethmann, Martina; Bast, Thomas; Braun, Sarah; Büttel, Hans‐Martin; Conover, Elizabeth; Courage, Carolina; Datta, Alexandre N.; Eger, Angelika; Grebe, Theresa A.; Hasse‐Wittmer, Annette; Heruth, Marion; Höft, Karen; Kaindl, Angela M.; Karch, Stephanie; Kautzky, Torsten; Korenke, Georg C.; Kruse, Bernd; Lutz, Richard E.; Omran, Heymut; Patzer, Steffi; Philippi, Heike; Ramsey, Keri; Rating, Tina; Rieß, Angelika; Schimmel, Mareike; Westman, Rachel; Zech, Frank‐Martin; Zirn, Birgit; Ulmke, Pauline A.; Sokpor, Godwin; Tuoc, Tran; Leha, Andreas; Staudt, Martin; Brockmann, Knut
Ann Clin Transl Neurol
Academic Journal
Lenaerts, Lisa; Reynhout, Sara; Verbinnen, Iris; Laumonnier, Frederic; Toutain, Annick; Bonnet-Brilhault, Frédérique; Hoorne, Yana; Joss, Shelagh; Chassevent, Anna; Smith-Hicks, Constance; Loeys, Bart; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Mehta, Sarju; Chung, Wendy; Devriendt, Koenraad; Holder, Susan; Jewett, Tamison; Baldwin, Lauren; Wilson, William; Towner, Shelley; Srivastava, Siddharth; Johnson, Hannah; Daumer-Haas, Cornelia; Baethmann, Martina; Ruiz, Anna; Gabau, Elisabeth; Jain, Vani; Varghese, Vinod; Al-Beshri, Ali; Fulton, Stephen; Wechsberg, Oded; Orenstein, Naama; Prescott, Katrina; Childs, Anne-Marie; Faivre, Laurence; Moutton, Sébastien; Sullivan, Jennifer; Shashi, Vandana; Koudijs, Suzanne; Heijligers, Malou; Kivuva, Emma; Mctague, Amy; Male, Alison; van Ierland, Yvette; Plecko, Barbara; Maystadt, Isabelle; Hamid, Rizwan; Hannig, Vickie; Houge, Gunnar; Janssens, Veerle
Genet Med
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Genetics in medicine
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
GENETICS IN MEDICINE
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
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Genetics in medicine
Academic Journal
Tacke, Moritz; Borggraefe, Ingo; Gerstl, Lucia; Heinen, Florian; Vill, Katharina; Bonfert, Michaela; Bast, Thomas; Neubauer, Bernd Axel; Baumeister, Friedrich; Baethmann, Martina; Bentele, Karl; Blank, Christian; Blank, Harald M.; Bode, Harald; Bosch, Friedrich; Brandl, Ulrich; Brockmann, Knut; Dahlem, Peter; Ernst, Jan-Peter; Feldmann, Evemarie; Fiedler, Andreas; Gerigk, Michael; Heß, Soeren; Hikel, Christiane; Hoffmann, Hans-Georg; Kieslich, Matthias; Klepper, Jörg; Kluger, Gerhard; Koch, Hartmut; Koch, Walter; Korinthenberg, Rudolf; Krois, Ilona; Kühne, Hermann; Kurlemann, Gerhard; Mandl, Michaela; Mause, Ulrike; Navratil, Peter; Opp, Joachim; Penzien, Johann; Prietsch, Viola; Quattländer, Axel; Rating, Dietz; Schara, Ulrike; Shamdeen, Mohammed G.; Sprinz, Andreas; Wendker-Magrabi, Hildegard; Stephani, Ulrich; Muhle, Hiltrud; Straßburg, Hans-Michael; Töpke, Bärbel; Trollmann, Regina; Tuschen-Hofstätter, Elisabeth; Waltz, Stephan; Weber, Gabriele; Wien, Frank U.; Wolff, Markus; Polster, Tilman; Freitag, Hedwig; Sönmez, Ötzcam; Reinhardt, Klaus; Traus, Marion; Hoovey, Zeecam
Seizure. 56:115-120
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
Tatjana, Bierhals; Georg Christoph, Korenke; Martina, Baethmann; Laura López, Marín; Martin, Staudt; Kerstin, Kutsche
European Journal of Medical Genetics. 61:329-334
Academic Journal
Rinecker M; Institute for Surgical Research, Klinikum Grosshadern, Ludwig-Maximilians-University, Munich, Germany.; Plesnila N; Baethmann A; Stoffel M
Publisher: Springer Country of Publication: Austria NLM ID: 0151000 Publication Model: Print Cited Medium: Print ISSN: 0001-6268 (Print) Linking ISSN: 00016268 NLM ISO Abbreviation: Acta Neurochir (Wien) Subsets: MEDLINE
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