학술논문
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'학술논문'
에서 검색결과 1,698건 | 목록
1~20
Academic Journal
Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E.; Iglesias-Romero, Ana Belén; Boonen, Erica G. M.; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K.; Tsang, Stephen H.; Corradi, Zelia; Freund, K. Bailey; Shliaga, Stefanida; Panneman, Daan M.; Hitti-Malin, Rebekkah J.; Ali, Manir; AlTalbishi, Ala’a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D. N.; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T. S.; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G.; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J. F.; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M.; Burin des Roziers, Cyril; Cadena, Elizabeth L.; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P.; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N.; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L.; Farrar, G. Jane; Feltgen, Nicolas; Fenner, Beau J.; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M.; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C.; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B.; Haer-Wigman, Lonneke; Hardcastle, Alison J.; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H.; Hoischen, Alexander; Holtan, Josephine P.; Hoyng, Carel B.; Ibanez, IV, Manuel Benjamin B.; Inglehearn, Chris F.; Iwata, Takeshi; Jensson, Brynjar O.; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C. W.; Knézy, Krisztina; Koenekoop, Robert K.; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M.; Leibu, Rina; Leroy, Bart P.; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R. de J.; Mahieu, Quinten; Mahroo, Omar A.; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M. Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L.; Meunier, Isabelle; Michaelides, Michel; Millán, José M.; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A.; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I.; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H.; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M.; Scarpato, Margherita; Scholl, Hendrik P. N.; Sharon, Dror; Signorini, Sabrina G.; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S.; Szabó, Viktória; Szaflik, Jacek P.; Taurina, Gita; Thiadens, Alberta A. H. J.; Toomes, Carmel; Tran, Viet H.; Tsilimbaris, Miltiadis K.; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L. Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J. M.; Vincent, Andrea L.; Webster, Andrew R.; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G.; Yoshitake, Kazutoshi; Zenteno, Juan C.; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I.; Lin, Siying; Cremers, Frans P. M.; Lee, Winston; Ellingford, Jamie M.; Stanek, David; Roosing, Susanne; Rivolta, Carlo
Nature Genetics. 58(1):169-179
Academic Journal
Clinical Neuroradiology: Official Journal of the German, Austrian, and Swiss Societies of Neuroradiology. :1-4
Academic Journal
Elisabetta Indelicato; Zofia Fleszar; David Pellerin; Wolfgang Nachbauer; Stephan Zuchner; Andreas Traschütz; Matthias Amprosi; Ludger Schöls; Tobias B. Haack; Bernard Brais; Sylvia Boesch; Matthis Synofzik
Movement Disorders. 40:2262-2268
Report
Acharyya, Atreya; Adams, Colin B.; Bangale, Priyadarshini; Bartkoske, J. T.; Benbow, Wystan; Buckley, James H.; Chen, Yu; Christiansen, Jodi; Chromey, Alisha; Duerr, Anne; Errando, Manel; Godoy, Miguel E.; Falcone, Abe; Feng, Qi; Foote, Juniper; Fortson, Lucy; Furniss, Amy; Hanlon, William; Hanna, David; Hervet, Olivier; Hinrichs, Claire E.; Holder, Jamie; Humensky, Thomas B.; Jin, Weidong; Johnson, Madalyn N.; Kaaret, Philip; Kertzman, Mary P.; Kherlakian, Maria; Kieda, David; Kleiner, Tobias K.; Korzoun, Mx. Nikolas; Krennrich, Frank; Kumar, Sajan; Lang, Mark J.; Lundy, Matthew; McGrath, Conor; Meyer, Eileen T.; Millard, Matthew J.; Millis, John; Mooney, Connor; Moriarty, Patrick; Mukherjee, Reshmi; Ning, Wenmeng; O'Brien, Stephan; Ong, Rene A.; Pohl, Martin; Pueschel, Elisa; Quinn, John; Rabinowitz, Pazit L.; Ragan, Ken; Reynolds, Paul; Ribeiro, Deivid; Roache, Emmet Thomas; Ryan, Jamie L.; Sadeh, Iftach; Sadun, Alberto; Saha, Lab; Santander, Marcos; Sembroski, Glenn H.; Shang, Ruo-Yu; Splettstoesser, Megan; Tak, Donggeun; Talluri, Anjana K.; Tucci, James V.; Valverde, Janeth; Williams, David A.; Wong, Sam L.; Woo, Jooyun; Abbasi, R.; Ackermann, M.; Adams, J.; Agarwalla, S. K.; Aguilar, J. A.; Ahlers, M.; Alameddine, J. M.; Amin, N. M.; Andeen, K.; Argüelles, C.; Ashida, Y.; Athanasiadou, S.; Axani, S. N.; Babu, R.; Bai, X.; V., A. Balagopal; Baricevic, M.; Barwick, S. W.; Bash, S.; Basu, V.; Bay, R.; Beatty, J. J.; Tjus, J. Becker; Beise, J.; Bellenghi, C.; BenZvi, S.; Berley, D.; Bernardini, E.; Besson, D. Z.; Blaufuss, E.; Bloom, L.; Blot, S.; Bontempo, F.; Motzkin, J. Y. Book; Meneguolo, C. Boscolo; Böser, S.; Botner, O.; Böttcher, J.; Braun, J.; Brinson, B.; Brisson-Tsavoussis, Z.; Brostean-Kaiser, J.; Brusa, L.; Burley, R. T.; Butterfield, D.; Campana, M. A.; Caracas, I.; Carloni, K.; Carpio, J.; Chattopadhyay, S.; Chau, N.; Chen, Z.; Chirkin, D.; Choi, S.; Clark, B. A.; Coleman, A.; Coleman, P.; Collin, G. H.; Connolly, A.; Conrad, J. M.; Corley, R.; Cowen, D. F.; De Clercq, C.; DeLaunay, J. J.; Delgado, D.; Deng, S.; Desai, A.; Desiati, P.; de Vries, K. D.; de Wasseige, G.; DeYoung, T.; Diaz, A.; Díaz-Vélez, J. C.; Dierichs, P.; Dittmer, M.; Domi, A.; Draper, L.; Dujmovic, H.; Durnford, D.; Dutta, K.; DuVernois, M. A.; Ehrhardt, T.; Eidenschink, L.; Eimer, A.; Eller, P.; Ellinger, E.; Mentawi, S. El; Elsässer, D.; Engel, R.; Erpenbeck, H.; Esmail, W.; Evans, J.; Evenson, P. A.; Fan, K. L.; Fang, K.; Farrag, K.; Fazely, A. R.; Fedynitch, A.; Feigl, N.; Fiedlschuster, S.; Finley, C.; Fischer, L.; Fox, D.; Franckowiak, A.; Fukami, S.; Fürst, P.; Gallagher, J.; Ganster, E.; Garcia, A.; Garcia, M.; Garg, G.; Genton, E.; Gerhardt, L.; Ghadimi, A.; Girard-Carillo, C.; Glaser, C.; Glüsenkamp, T.; Gonzalez, J. G.; Goswami, S.; Granados, A.; Grant, D.; Gray, S. J.; Griffin, S.; Griswold, S.; Groth, K. M.; Guevel, D.; Günther, C.; Gutjahr, P.; Ha, C.; Haack, C.; Hallgren, A.; Halve, L.; Halzen, F.; Hamacher, L.; Hamdaoui, H.; Minh, M. Ha; Handt, M.; Hanson, K.; Hardin, J.; Harnisch, A. A.; Hatch, P.; Haungs, A.; Häußler, J.; Helbing, K.; Hellrung, J.; Hermannsgabner, J.; Heuermann, L.; Heyer, N.; Hickford, S.; Hidvegi, A.; Hill, C.; Hill, G. C.; Hmaid, R.; Hoffman, K. D.; Hori, S.; Hoshina, K.; Hostert, M.; Hou, W.; Huber, T.; Hultqvist, K.; Hünnefeld, M.; Hussain, R.; Hymon, K.; Ishihara, A.; Iwakiri, W.; Jacquart, M.; Jain, S.; Janik, O.; Jansson, M.; Jeong, M.; Jin, M.; Jones, B. J. P.; Kamp, N.; Kang, D.; Kang, W.; Kang, X.; Kappes, A.; Kappesser, D.; Kardum, L.; Karg, T.; Karl, M.; Karle, A.; Katil, A.; Katz, U.; Kauer, M.; Kelley, J. L.; Khanal, M.; Zathul, A. Khatee; Kheirandish, A.; Kiryluk, J.; Klein, S. R.; Kobayashi, Y.; Kochocki, A.; Koirala, R.; Kolanoski, H.; Kontrimas, T.; Köpke, L.; Kopper, C.; Koskinen, D. J.; Koundal, P.; Kowalski, M.; Kozynets, T.; Krieger, N.; Krishnamoorthi, J.; Krishnan, T.; Kruiswijk, K.; Krupczak, E.; Kumar, A.; Kun, E.; Kurahashi, N.; Lad, N.; Gualda, C. Lagunas; Lamoureux, M.; Larson, M. J.; Lauber, F.; Lazar, J. P.; DeHolton, K. Leonard; Leszczyńska, A.; Liao, J.; Lincetto, M.; Liu, Y. T.; Liubarska, M.; Love, C.; Lu, L.; Lucarelli, F.; Luszczak, W.; Lyu, Y.; Madsen, J.; Magnus, E.; Mahn, K. B. M.; Makino, Y.; Manao, E.; Mancina, S.; Mand, A.; Sainte, W. Marie; Mariş, I. C.; Marka, S.; Marka, Z.; Marsee, M.; Martinez-Soler, I.; Maruyama, R.; Mayhew, F.; McNally, F.; Mead, J. V.; Meagher, K.; Mechbal, S.; Medina, A.; Meier, M.; Merckx, Y.; Merten, L.; Mitchell, J.; Montaruli, T.; Moore, R. W.; Morii, Y.; Morse, R.; Moulai, M.; Mukherjee, T.; Naab, R.; Nakos, M.; Naumann, U.; Necker, J.; Negi, A.; Neste, L.; Neumann, M.; Niederhausen, H.; Nisa, M. U.; Noda, K.; Noell, A.; Novikov, A.; Pollmann, A. Obertacke; O'Dell, V.; Olivas, A.; Orsoe, R.; Osborn, J.; O'Sullivan, E.; Palusova, V.; Pandya, H.; Park, N.; Parker, G. K.; Parrish, V.; Paudel, E. N.; Paul, L.; Heros, C. Pérez de los; Pernice, T.; Peterson, J.; Pizzuto, A.; Plum, M.; Pontén, A.; Popovych, Y.; Rodriguez, M. Prado; Pries, B.; Procter-Murphy, R.; Przybylski, G. T.; Pyras, L.; Raab, C.; Rack-Helleis, J.; Rad, N.; Ravn, M.; Rawlins, K.; Rechav, Z.; Rehman, A.; Resconi, E.; Reusch, S.; Rhode, W.; Riedel, B.; Rifaie, A.; Roberts, E. J.; Robertson, S.; Rodan, S.; Rongen, M.; Rosted, A.; Rott, C.; Ruhe, T.; Ruohan, L.; Safa, I.; Saffer, J.; Salazar-Gallegos, D.; Sampathkumar, P.; Sandrock, A.; Santander, M.; Sarkar, S.; Savelberg, J.; Savina, P.; Schaile, P.; Schaufel, M.; Schieler, H.; Schindler, S.; Schlickmann, L.; Schlüter, B.; Schlüter, F.; Schmeisser, N.; Schmidt, T.; Schneider, J.; Schröder, F. G.; Schumacher, L.; Schwirn, S.; Sclafani, S.; Seckel, D.; Seen, L.; Seikh, M.; Seo, M.; Seunarine, S.; Myhr, P. A. Sevle; Shah, R.; Shefali, S.; Shimizu, N.; Silva, M.; Skrzypek, B.; Smithers, B.; Snihur, R.; Soedingrekso, J.; Søgaard, A.; Soldin, D.; Soldin, P.; Sommani, G.; Spannfellner, C.; Spiczak, G. M.; Spiering, C.; Stachurska, J.; Stamatikos, M.; Stanev, T.; Stezelberger, T.; Stürwald, T.; Stuttard, T.; Sullivan, G. W.; Taboada, I.; Ter-Antonyan, S.; Terliuk, A.; Thiesmeyer, M.; Thompson, W. G.; Thwaites, J.; Tilav, S.; Tollefson, K.; Tönnis, C.; Toscano, S.; Tosi, D.; Trettin, A.; Elorrieta, M. A. Unland; Upadhyay, A. K.; Upshaw, K.; Vaidyanathan, A.; Valtonen-Mattila, N.; Vandenbroucke, J.; van Eijndhoven, N.; Vannerom, D.; van Santen, J.; Vara, J.; Varsi, F.; Veitch-Michaelis, J.; Venugopal, M.; Vereecken, M.; Carrasco, S. Vergara; Verpoest, S.; Veske, D.; Vijai, A.; Walck, C.; Wang, A.; Weaver, C.; Weigel, P.; Weindl, A.; Weldert, J.; Wen, A. Y.; Wendt, C.; Werthebach, J.; Weyrauch, M.; Whitehorn, N.; Wiebusch, C. H.; Williams, D. R.; Witthaus, L.; Wolf, M.; Wrede, G.; Xu, X. W.; Yanez, J. P.; Yildizci, E.; Yoshida, S.; Young, R.; Yu, F.; Yu, S.; Yuan, T.; Zegarelli, A.; Zhang, S.; Zhang, Z.; Zhelnin, P.; Zilberman, P.; Zimmerman, M.; Drake, Pablo; Spira-Savett, Elizabeth; Lusen, Piatra; Mori, Kaya
Academic Journal
Till, Andreas; Siddiqui, Roman A.; Altbürger, Christian; Schwarz, Ronald; Huebner, Tatjana; Wolf, Jürgen; Andres, Dorothee; Anker, Anika; Aretz, Stefan; Haack, Tobias B.; Berlage, Thomas; Beule, Dieter; Boerries, Melanie; Buchhalter, Ivo; Bussmann, Jens; Engel, Christoph; Friedrichs, Juliane; Fröhling, Stefan; Haenisch, Britta; Hahne, Andrea; Hübschmann, Daniel; von Kessel, Friedrich; Klatt, Rudolf; Kreutzfeldt, Simon; Kron, Anna; Krude, Heiko; Lübbe, Anna; Lührig, Uwe; Malek, Nisar; Mertes, Christian; Möller, Yvonne; Mundlos, Christine; Nöthen, Markus M.; Ossowski, Stephan; Pötschke, Luca; Rasokat, Anna; Riess, Olaf; Schade, Sophia; Schirmacher, Peter; Schmutzler, Rita; Scholl, Catharina; Semler, Sebastian C.; Spielmann, Malte; Stegle, Oliver; Stenzinger, Albrecht; Straßburger, Jana; Schröck, Evelin; Krawczak, Michael; Kohlbacher, Oliver
Nature Medicine. :1-4
Academic Journal
Anne Buchberger; Evamaria Riedel; Marie Hackenberg; Alexander Mensch; Stefanie Beck‐Woedl; Joohyun Park; Tobias B. Haack; Bernhard Haslinger; Jan Kirschke; Holger Prokisch; Andreas Hermann; Christian Mawrin; Adrian Danek; Benedikt Schoser; Kevin Peikert; Marcus Deschauer; Isabell Cordts
Annals of Clinical and Translational Neurology, Vol 13, Iss 1, Pp 157-169 (2026)
Academic Journal
Steven Laurie; Wouter Steyaert; Elke de Boer; Kiran Polavarapu; Nika Schuermans; Anna K. Sommer; German Demidov; Kornelia Ellwanger; Ida Paramonov; Coline Thomas; Stefan Aretz; Jonathan Baets; Elisa Benetti; Gemma Bullich; Patrick F. Chinnery; Jill Clayton-Smith; Enzo Cohen; Daniel Danis; Jean-Madeleine de Sainte Agathe; Anne-Sophie Denommé-Pichon; Jordi Diaz-Manera; Stephanie Efthymiou; Laurence Faivre; Marcos Fernandez-Callejo; Mallory Freeberg; José Garcia-Pelaez; Lena Guillot-Noel; Tobias B. Haack; Mike Hanna; Holger Hengel; Rita Horvath; Henry Houlden; Adam Jackson; Lennart Johansson; Mridul Johari; Erik-Jan Kamsteeg; Melanie Kellner; Tjitske Kleefstra; Didier Lacombe; Hanns Lochmüller; Estrella López-Martín; Alfons Macaya; Anna Marcé-Grau; Aleš Maver; Heba Morsy; Francesco Muntoni; Francesco Musacchia; Isabelle Nelson; Vincenzo Nigro; Catarina Olimpio; Carla Oliveira; Jaroslava Paulasová Schwabová; Martje G. Pauly; Borut Peterlin; Sophia Peters; Rolph Pfundt; Giulio Piluso; Davide Piscia; Manuel Posada; Selina Reich; Alessandra Renieri; Lukas Ryba; Karolis Šablauskas; Marco Savarese; Ludger Schöls; Leon Schütz; Verena Steinke-Lange; Giovanni Stevanin; Volker Straub; Marc Sturm; Morris A. Swertz; Marco Tartaglia; Iris B. A. W. te Paske; Rachel Thompson; Annalaura Torella; Christina Trainor; Bjarne Udd; Liedewei Van de Vondel; Bart van de Warrenburg; Jeroen van Reeuwijk; Jana Vandrovcova; Antonio Vitobello; Janet Vos; Emílie Vyhnálková; Robin Wijngaard; Carlo Wilke; Doreen William; Jishu Xu; Burcu Yaldiz; Luca Zalatnai; Birte Zurek; Richarda M. de Voer; Lisenka E. L. M. Vissers; Anthony J. Brookes; Teresinha Evangelista; Christian Gilissen; Holm Graessner; Nicoline Hoogerbrugge; Stephan Ossowski; Olaf Riess; Rebecca Schüle; Matthis Synofzik; Alain Verloes; Leslie Matalonga; Han G. Brunner; Katja Lohmann; Ana Töpf; Lisenka E.L.M. Vissers; Sergi Beltran; Alexander Hoischen
Nat Med
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Nature medicine 31(2), 478-489 (2025). doi:10.1038/s41591-024-03420-w
Nature Medicine, 31, 2, pp. 478-489
Nature medicine
Academic Journal
Johannes Hilberath; Ilias Tsiflikas; Anna Sanders; Justus Lieber; Tobias Luithle; Tobias B. Haack; Ekkehard Sturm; Jörg Fuchs; Steven Warmann; Christoph Slavetinsky
Orphanet Journal of Rare Diseases, Vol 21, Iss 1, Pp 1-10 (2025)
Academic Journal
Benita Menden; Rana D. Incebacak Eltemur; German Demidov; Marc Sturm; Joohyun Park; Chrisovalantou Huridou; Florian Fath; Astrid Nümann; Alexander Baumann; Illja J. Diets; Claudia Dufke; Martin Regensburger; Maria Rönnefarth; Vera Wilke; Nienke van Os; Stefan Vielhaber; Tim W. Rattay; Zacharias Kohl; Susana Peralta; Priscila Pereira Sena; Melanie Kellner; Nadine Weissert; Andreas Traschütz; Lena Zeltner; Kai Boelmans; Natalie Deininger; Leon Schütz; Caspar Gross; Ana Beatriz Hinojosa Amaya; Katrin Raupach; Holger Hengel; Florian Harmuth; Jakob Admard; Ingrid Bader; Sarah Baumann; Friedemann Bender; Andrea Bevot; Almut Bischoff; Felix Boschann; Rebecca Buchert; Daniel Buchzik; Nicolas Casadei; Claudia B. Catarino; Isabell Cordts; Kirsten Cremer; Marion Doebler-Neumann; Nadja Ehmke; Miriam Elbracht; Ruth J. Falb; Thomas Feindt; Zofia Fleszar; Lea Gerstner; Dieter Gläser; Ute Grasshoff; Sarah Grosch; Kathrin Grundmann; Alexander Gutschalk; Manja Haaga; Stefanie Hayer; Ute Hehr; Yorck Hellenbroich; Wolfram Henn; Barbara Herr; Rebecca Herzog; Veronka Horber; Jonas Deppe; Nadja Kaiser; Christiane Kehrer; Martin Kehrer; Jan Kern; Christoph Keßler; Katharina Khuller; Hannah Klinkhammer; Urania Kotzaeridou; Peter Krawitz; Martina Kreiss; Hanna Küpper; Alice Kuster; Lucia Laugwitz; Anne Lesemann; Nadine Lichey; Tobias Linden; Boris Macek; Janine Magg; Elisabeth Mangold; Eva Manka; Iris Marquardt; Karl Mehnert; David Mengel; Susanne Morlot; Barbara Oehl-Jaschkowitz; Martje G. Pauly; Melanie Philipp; Florentine Radelfahr; Maren Rautenberg; Angelika Riess; Carsten Saft; Beate Schlotter-Weigel; Axel Schmidt; Eva M. C. Schwaibold; Veronika Spahlinger; Stephanie Spranger; Katharina Marie Steiner; Claudia Stendel; Andreas Thieme; Andreas Tzschach; Ana Velic; Sarah Wiethoff; Carlo Wilke; Stephan Züchner; Simone Zittel; Solve-RD consortium; Ralf A. Husain; Marcus Deschauer; Felix Distelmaier; Andreas Dufke; Holm Graessner; Bernhard Hemmer; Heike Jacobi; Thomas Klockgether; Thomas Klopstock; Xenia Kobeleva; Georg-Christoph Korenke; Alma Kuechler; Gregor Kuhlenbäumer; Ingo Kurth; Huu Phuc Nguyen; Gilbert Wunderlich; Kirsten E. Zeuner; Stephan Klebe; Michaela Auer-Grumbach; Michaela Butryn; Jürgen Winkler; Dagmar Timmann; Matthis Synofzik; Bart van de Warrenburg; Rebecca Schüle; Ludger Schöls; Stephan Ossowski; Olaf Riess; Jonasz J. Weber; Tobias B. Haack
Nature Communications, Vol 17, Iss 1 (2026)
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Natalia Dominik; Stephanie Efthymiou; Christopher J. Record; Xinyu Miao; Renee Q. Lin; Jevin M. Parmar; Annarita Scardamaglia; Reza Maroofian; Simon A. Lowe; Gabriel N. Aughey; Abigail D. Wilson; Riccardo Curro; Ricardo P. Schnekenberg; Shahryar Alavi; Leif Leclaire; Yi He; Kristina Zhelcheska; Yohanns Bellaiche; Isabelle Gaugué; Mariola Skorupinska; Liedewei Van de Vondel; Sahar I. Da'as; Valentina Turchetti; Serdal Güngör; Gavin V. Monahan; Ehsan Ghayoor Karimiani; Yalda Jamshidi; Phillipa J. Lamont; Camila Armirola-Ricaurte; Haluk Topaloglu; Albena Jordanova; Mashaya Zaman; Selina H. Banu; Wilson Marques; Pedro J. Tomaselli; Busra Aynekin; Ali Cansu; Huseyin Per; Ayten Güleç; Javeria Raza Alvi; Tipu Sultan; Arif Khan; Giovanni Zifarelli; Shahnaz Ibrahim; Grazia M. S. Mancini; M.M. Motazacker; Esther Brusse; Vincenzo Lupo; Teresa Sevilla; A. Nazli Başak; Seyma Tekgul; Robin J. Palvadeau; Jonathan Baets; Yesim Parman; Arman Çakar; Rita Horvath; Tobias B. Haack; Jan-Hendrik Stahl; Kathrin Grundmann-Hauser; Joohyun Park; Stephan Zuchner; Nigel G. Laing; Lindsay A. Wilson; Alexander M. Rossor; James Polke; Fernanda Barbosa Figueiredo; André Pessoa; Fernando Kok; Antônio Rodrigues Coimbra-Neto; Marcondes C. Franca Jr; Gianina Ravenscroft; Sherifa A. Hamed; Wendy K. Chung; Alan M. Pittman; Daniel P. Osborn; Michael Hanna; Andrea Cortese; Mary M. Reilly; James E.C. Jepson; Nathalie Lamarche-Vane; Henry Houlden
Journal of Clinical Investigation.
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Rebecca Buchert; Martin D. Burkhalter; Chrisovalantou Huridou; Linda Sofan; Timo Roser; Kirsten Cremer; Javeria Raza Alvi; Stephanie Efthymiou; Tawfiq Froukh; Sughra Gulieva; Ulviyya Guliyeva; Moath Hamdallah; Muriel Holder-Espinasse; Rauan Kaiyrzhanov; Doreen Klingler; Mahmoud Koko; Lars Matthies; Joohyun Park; Marc Sturm; Ana Velic; Stephanie Spranger; Tipu Sultan; Hartmut Engels; Holger Lerche; Henry Houlden; Alistair T. Pagnamenta; Ingo Borggraefe; Yvonne Weber; Penelope E. Bonnen; Reza Maroofian; Olaf Riess; Jonasz J. Weber; Melanie Philipp; Tobias B. Haack
Am J Hum Genet
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Nava, Caroline; Cogne, Benjamin; Santini, Amandine; Leitão, Elsa; Lecoquierre, François; Chen, Yuyang; Stenton, Sarah L.; Besnard, Thomas; Heide, Solveig; Baer, Sarah; Jakhar, Abhilasha; Neuser, Sonja; Keren, Boris; Faudet, Anne; Forlani, Sylvie; Faoucher, Marie; Uguen, Kevin; Platzer, Konrad; Afenjar, Alexandra; Alessandri, Jean-Luc; Andres, Stephanie; Angelini, Chloé; Aral, Bernard; Arveiler, Benoit; Attie-Bitach, Tania; Aubert Mucca, Marion; Banneau, Guillaume; Barakat, Tahsin Stefan; Barcia, Giulia; Baulac, Stéphanie; Beneteau, Claire; Benkerdou, Fouzia; Bernard, Virginie; Bézieau, Stéphane; Bonneau, Dominique; Bonnet-Dupeyron, Marie-Noelle; Boussion, Simon; Boute, Odile; Brischoux-Boucher, Elise; Bryen, Samantha J.; Buratti, Julien; Busa, Tiffany; Caliebe, Almuth; Capri, Yline; Cassinari, Kévin; Caumes, Roseline; Cenni, Camille; Chambon, Pascal; Charles, Perrine; Christodoulou, John; Colson, Cindy; Conrad, Solène; Cospain, Auriane; Coursimault, Juliette; Courtin, Thomas; Couse, Madeline; Coutton, Charles; Creveaux, Isabelle; D’Gama, Alissa M.; Dauriat, Benjamin; de Sainte Agathe, Jean-Madeleine; Del Gobbo, Giulia; Delahaye-Duriez, Andrée; Delanne, Julian; Denommé-Pichon, Anne-Sophie; Dieux-Coeslier, Anne; Do Souto Ferreira, Laura; Doco-Fenzy, Martine; Drukewitz, Stephan; Duboc, Véronique; Dubourg, Christèle; Duffourd, Yannis; Dyment, David; El Chehadeh, Salima; Elmaleh, Monique; Faivre, Laurence; Fennelly, Samuel; Fischer, Hanna; Fradin, Mélanie; Galludec Vaillant, Camille; Ganne, Benjamin; Ghoumid, Jamal; Goel, Himanshu; Gokce-Samar, Zeynep; Goldenberg, Alice; Gonfreville Robert, Romain; Gorokhova, Svetlana; Goujon, Louise; Granier, Victoria; Gras, Mathilde; Greally, John M.; Greiten, Bianca; Gueguen, Paul; Guerrot, Anne-Marie; Guha, Saurav; Guimier, Anne; Haack, Tobias B.; Hadj Abdallah, Hamza; Halleb, Yosra; Harbuz, Radu; Harris, Madeleine; Hentschel, Julia; Héron, Bénédicte; Hitz, Marc-Phillip; Innes, A. Micheil; Jadas, Vincent; Januel, Louis; Jean-Marçais, Nolwenn; Jobanputra, Vaidehi; Jobic, Florence; Jornea, Ludmila; Jost, Céline; Julia, Sophie; Kaiser, Frank J.; Kaschta, Daniel; Kaya, Sabine; Ketteler, Petra; Khadija, Bochra; Kilpert, Fabian; Knopp, Cordula; Kraft, Florian; Krey, Ilona; Lackmy, Marilyn; Laffargue, Fanny; Lambert, Laetitia; Lamont, Ryan; Laugel, Vincent; Laurie, Steven; Lauzon, Julie L.; Lebreton, Louis; Lebrun, Marine; Legendre, Marine; Leguern, Eric; Lehalle, Daphné; Lejeune, Elodie; Lesca, Gaetan; Lesieur-Sebellin, Marion; Levy, Jonathan; Linglart, Agnès; Lyonnet, Stanislas; Lüthy, Kevin; Ma, Alan S.; Mach, Corinne; Mandel, Jean-Louis; Mansour-Hendili, Lamisse; Marcadier, Julien; Marin, Victor; Margot, Henri; Marquet, Valentine; May, Angèle; Mayr, Johannes A.; Meridda, Catherine; Michaud, Vincent; Michot, Caroline; Nadeau, Gwenael; Naudion, Sophie; Nguyen, Laetitia; Nizon, Mathilde; Nowak, Frédérique; Odent, Sylvie; Olin, Valerie; Osei-Owusu, Ikeoluwa A.; Osmond, Matthew; Õunap, Katrin; Pasquier, Laurent; Passemard, Sandrine; Pauly, Melissa; Patat, Olivier; Pensec, Marine; Perrin-Sabourin, Laurence; Petit, Florence; Philippe, Christophe; Planes, Marc; Poduri, Annapurna; Poirsier, Céline; Pouzet, Antoine; Prince, Bradley; Prouteau, Clément; Pujol, Aurora; Racine, Caroline; Rama, Mélanie; Ramond, Francis; Ranguin, Kara; Raway, Margaux; Reis, André; Renaud, Mathilde; Revencu, Nicole; Richard, Anne-Claire; Riera-Navarro, Lucile; Rius, Rocio; Rodriguez, Diana; Rodriguez-Palmero, Agustí; Rondeau, Sophie; Roser-Unruh, Annika; Rougeot Jung, Christelle; Safraou, Hana; Satre, Véronique; Saugier-Veber, Pascale; Sauvestre, Clément; Schaefer, Elise; Shao, Wanqing; Schanze, Ina; Schlump, Jan-Ulrich; Schlüter Martin, Agatha; Schluth-Bolard, Caroline; Schuhmann, Sarah; Schröder, Christopher; Sebastin, Monisha; Sigaudy, Sabine; Spielmann, Malte; Spodenkiewicz, Marta; St Clair, Laura; Steffann, Julie; Stoeva, Radka; Surowy, Harald; Tarnopolsky, Mark A.; Todosi, Calina; Toutain, Annick; Tran Mau-Them, Frédéric; Unterlauft, Astrid; Van-Gils, Julien; Vanlerberghe, Clémence; Vasileiou, Georgia; Vera, Gabriella; Verdel, André; Verloes, Alain; Vial, Yoann; Vignal, Cédric; Vincent, Marie; Vincent-Delorme, Catherine; Vincent-Devulder, Aline; Vitobello, Antonio; Weber, Sacha; Willems, Marjolaine; Zaafrane-Khachnaoui, Khaoula; Zacher, Pia; Zeltner, Lena; Ziegler, Alban; Galej, Wojciech P.; Dollfus, Hélène; Thauvin, Christel; Boycott, Kym M.; Marijon, Pierre; Lermine, Alban; Malan, Valérie; Rio, Marlène; Kuechler, Alma; Isidor, Bertrand; Drunat, Séverine; Smol, Thomas; Chatron, Nicolas; Piton, Amélie; Nicolas, Gael; Wagner, Matias; Abou Jamra, Rami; Héron, Delphine; Mignot, Cyril; Blanc, Pierre; O’Donnell-Luria, Anne; Whiffin, Nicola; Charbonnier, Camille; Charenton, Clément; Thevenon, Julien; Depienne, Christel
Nature Genetics. :1-15
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Cosima M. Schmid; Anne Gregor; Anna Ruiz; Carmen Manso Bazús; Isabella Herman; Farah Ammouri; Urania Kotzaeridou; Vanda McNiven; Lucie Dupuis; Katharina Steindl; Anaïs Begemann; Anita Rauch; Aude-Annick Suter; Bertrand Isidor; Sandra Mercier; Mathilde Nizon; Benjamin Cogné; Wallid Deb; Thomas Besnard; Tobias B. Haack; Ruth J. Falb; Amelie J. Müller; Tobias Linden; Chad R. Haldeman-Englert; Charlotte W. Ockeloen; Francesca Mattioli; Alexandre Reymond; Nazia Ibrahim; Shagufta Naz; Elodie Lacaze; Jennifer A. Bassetti; Julia Hoefele; Theresa Brunet; Korbinian M. Riedhammer; Houda Z. Elloumi; Richard Person; Fanggeng Zou; Juliette J. Kahle; Kirsten Cremer; Axel Schmidt; Marie-Ange Delrue; Pedro M. Almeida; Fabiana Ramos; Siddharth Srivastava; Aisling Quinlan; Stephen Robertson; Eva Manka; Alma Kuechler; Stephanie Spranger; Malgorzata J. M. Nowaczyk; Reem M. Elshafie; Hind Alsharhan; Paul R. Hillman; Leslie A. Dunnington; Hilde M. H. Braakman; Shane McKee; Angelica Moresco; Andrea-Diana Ignat; Ruth Newbury-Ecob; Guillaume Banneau; Olivier Patat; Jeffrey Kuerbitz; Susan Rzucidlo; Susan S. Sell; Patricia Gordon; Sarah Schuhmann; André Reis; Yosra Halleb; Radka Stoeva; Boris Keren; Zainab Al Masseri; Zeynep Tümer; Sophia Hammer-Hansen; Sofus Krüger Sølyst; Connolly G. Steigerwald; Nicolas J. Abreu; Helene Faust; Amica Müller-Nedebock; Frédéric Tran Mau-Them; Heinrich Sticht; Christiane Zweier
Eur J Hum Genet
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
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European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
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Science
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Ann-Sophie Kiesel; Lucia Laugwitz; Rebecca Buchert; Mona Grimmel; Sarah Baumann; Marc Sturm; Selina Reich; Martje G Pauly; Norbert Brüggemann; Alexander Münchau; Olga Oleksiuk; Matthis Synofzik; Tobias B Haack; Susana Peralta
Brain
Brain 148(4), e24-e28 (2025). doi:10.1093/brain/awae402
Brain 148(4), e24-e28 (2025). doi:10.1093/brain/awae402
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Clin Genet
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Nat Med
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Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
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