학술논문
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'학술논문'
에서 검색결과 2,220건 | 목록
1~20
Conference
Straub, Michael; Guerrier, Sterenn; Das, Sandip; Fullner, Christoph; Huckstadt, Volker; Knorr, Frank; Bonk, Rene
2025 European Conference on Optical Communications (ECOC) Optical Communications (ECOC), 2025 European Conference on. :1-4 Sep, 2025
Academic Journal
European Journal of Human Genetics. 34(2):288-292
Academic Journal
Lorenz, Christina; Kapoor, Aakriti; Tomar, Akanksha; Ondhia, Umang; Pane, Marika; Straub, Volker; Walter, Maggie C.
Journal of Rare Diseases. 4(1)
Academic Journal
Dominik Szymski; Josina Straub; Nike Walter; Yinan Wu; Oliver Melsheimer; Alexander Grimberg; Volker Alt; Arnd Steinbrueck; Markus Rupp
Knee Surgery and Related Research (Knee Surg Relat Res). Jan 01, 2025 37:1
Academic Journal
Tedesco, Barbara; Peric, Stojan; Kocak, Goknur Selen; Tan, Jiayan; Duong, Han; Töpf, Ana; Rakocevic-Stojanovic, Vidosava; Milenkovic, Sanja; Parkhurst, Yolande; Gibbs, Liliane; Martin-Rios, Angela; Lambiase, Pier D.; Guttmann, Oliver P.; Marini-Bettolo, Chiara; Harris, Elizabeth; Harms, Matthew B.; Ivanovic, Vukan; Marchesi, Veronica; Milone, Margherita; Timmerman, Vincent; Straub, Volker; Poletti, Angelo; Kimonis, Virginia
European Journal of Human Genetics. :1-10
Academic Journal
Kishnani, Priya S.; Díaz-Manera, Jordi; Illarioshkin, Sergey; van der Ploeg, Ans T.; Clemens, Paula R.; Day, John W.; Toscano, Antonio; Kushlaf, Hani; Ladha, Shafeeq; Attarian, Shahram; Carvalho, Gerson; Kostera-Pruszczyk, Anna; Erdem-Özdamar, Sevim; Goker-Alpan, Ozlem; Mozaffar, Tahseen; Straub, Volker; Roberts, Mark; Haack, Kristina An; Huynh-Ba, Olivier; Tammireddy, Swathi; Periquet, Magali; Thibault, Nathan; Zhou, Tianyue; Dimachkie, Mazen M.; Schoser, Benedikt
Journal of Neurology. 272(9)
Academic Journal
Topf, Ana; Cox, Dan; Zaharieva, Irina; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealby, Ian; Smolnikov, Andrei; White, Richard; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen; Venturini, Cristina; Vroling, Bas; Stenton, Sarah; Cummings, Beryl; Harris, Elizabeth; Bettolo, Chiara Marini; Manera, Jordi Diaz; Barresi, Rita; Duff, Jennifer; England, Eleina; Patrick, Jane; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan; Macarthur, Daniel; Sarkozy, Anna; Cordell, Heather; Udd, Bjarne; Busch-Nentwich, Elisabeth; Muntoni, Francesco; Straub, Volker
Journal of the Neurological Sciences. 480
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; Nicoline Hoogerbrugge; Olaf Riess; Alain Verloes; Lisenka E.L.M. Vissers; Teresinha Evangelista; Ana Töpf; Holm Graessner; Katja Lohmann; Rebecca Schüle; Matthis Synofzik; Sergi Beltran; Christian Gilissen; Anthony J. Brookes; Han G. Brunner; Alexander Hoischen; Leslie Matalonga; Stephan Ossowski
Nat Med
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Nature medicine 31(8), 2819-2820 (2025). doi:10.1038/s41591-025-03754-z
Academic Journal
Birkbeck, Matthew G.; Schofield, Ian S.; Wilson, Ian; Bashford, James; Hall, Julie; Marini-Bettolo, Chiara; Straub, Volker; Whittaker, Roger G.; Blamire, Andrew M.
Neuromuscular Disorders. 60
Academic Journal
Warman-Chardon, Jodi; Straub, Volker; Vissing, John; Schlaeger, Sarah; Kan, Hermien E.; Carlier, Pierre G.; Claeys, Kristl; Froeling, Martijn; Kan, Hermien E; Monforte, Mauro; Morrow, Jasper; Pichiecchio, Anna; Rauh, Susanne S.; Reyngoudt, Harmen; Santini, Francesco; Schlaffke, Lara; Tasca, Giorgio; Thornton, John; Walter, Glenn
Neuromuscular Disorders. 60
Academic Journal
Straub, Volker; Clause, Amanda R.; Donkervoort, Sandra; Kang, Peter B.; Laverty, Chamindra G.; Niu, Zhiyv; Wicklund, Matthew P.; Bönnemann, Carsten G.; Cooper, Sandra T.; Díaz-Manera, Jordi; Johnson, Nicholas E.; Narayanaswami, Pushpa; Vissing, John; Walter, Maggie C.; Craige, Caryne; Weihl, Conrad C.
Neurology. Oct 28, 2025 105(10)
Academic Journal
Riguzzi, Pietro; Borland, Holly; James, Meredith K.; Bourke, John; Bettolo, Chiara Marini; Lofra, Robert Muni; Diaz-Manera, Jordi; Tasca, Giorgio; Schiava, Marianela; ElSeed, Maha; Harris, Elizabeth; Grover, Emma; Geagan, Chloe; Diaz, Carla Bolano; Haagsma, Ariele Barreto; Salman, Doaa; Reeves, Tara; Kocak, Goknur S.; Robinson, Emma; Waldock, Peter; McCallum, Michelle; Michell-Sodhi, Jassi; Moat, Dionne; Wong, Karen; Topf, Ana; Pegoraro, Elena; Bello, Luca; Straub, Volker; Guglieri, Michela
Journal of Neurology. 272(7)
Academic Journal
White, Zoe; Rufibach, Laura; Dressman, Heather Gordish; Hilsden, Heather; Cox, Dan; Spuler, Simone; Day, John W; Jones, Kristi J; Bharucha-Goebel, Diana X; Salort-Campana, Emmanuelle; Pestronk, Alan; Walter, Maggie C; Paradas, Carmen; Stojkovic, Tanya; Mori-Yoshimura, Madoka; Bravver, Elena; Diaz-Manera, Jordi; Pegoraro, Elena; Mendell, Jerry R; Straub, Volker; Bernatchez, Pascal
J Cachexia Sarcopenia Muscle
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Academic Journal
Laurie, Steven; Steyaert, Wouter; de Boer, Elke; Polavarapu, Kiran; Schuermans, Nika; Sommer, Anna K.; Demidov, German; Ellwanger, Kornelia; Paramonov, Ida; Thomas, Coline; Aretz, Stefan; Baets, Jonathan; Benetti, Elisa; Bullich, Gemma; Chinnery, Patrick F.; Clayton-Smith, Jill; Cohen, Enzo; Danis, Daniel; de Sainte Agathe, Jean-Madeleine; Denommé-Pichon, Anne-Sophie; Diaz-Manera, Jordi; Efthymiou, Stephanie; Faivre, Laurence; Fernandez-Callejo, Marcos; Freeberg, Mallory; Garcia-Pelaez, José; Guillot-Noel, Lena; Haack, Tobias B.; Hanna, Mike; Hengel, Holger; Horvath, Rita; Houlden, Henry; Jackson, Adam; Johansson, Lennart; Johari, Mridul; Kamsteeg, Erik-Jan; Kellner, Melanie; Kleefstra, Tjitske; Lacombe, Didier; Lochmüller, Hanns; López-Martín, Estrella; Macaya, Alfons; Marcé-Grau, Anna; Maver, Aleš; Morsy, Heba; Muntoni, Francesco; Musacchia, Francesco; Nelson, Isabelle; Nigro, Vincenzo; Olimpio, Catarina; Oliveira, Carla; Paulasová Schwabová, Jaroslava; Pauly, Martje G.; Peterlin, Borut; Peters, Sophia; Pfundt, Rolph; Piluso, Giulio; Piscia, Davide; Posada, Manuel; Reich, Selina; Renieri, Alessandra; Ryba, Lukas; Šablauskas, Karolis; Savarese, Marco; Schöls, Ludger; Schütz, Leon; Steinke-Lange, Verena; Stevanin, Giovanni; Straub, Volker; Sturm, Marc; Swertz, Morris A.; Tartaglia, Marco; te Paske, Iris B. A. W.; Thompson, Rachel; Torella, Annalaura; Trainor, Christina; Udd, Bjarne; Van de Vondel, Liedewei; van de Warrenburg, Bart; van Reeuwijk, Jeroen; Vandrovcova, Jana; Vitobello, Antonio; Vos, Janet; Vyhnálková, Emílie; Wijngaard, Robin; Wilke, Carlo; William, Doreen; Xu, Jishu; Yaldiz, Burcu; Zalatnai, Luca; Zurek, Birte; Brookes, Anthony J.; Evangelista, Teresinha; Gilissen, Christian; Graessner, Holm; Hoogerbrugge, Nicoline; Ossowski, Stephan; Riess, Olaf; Schüle, Rebecca; Synofzik, Matthis; Verloes, Alain; Matalonga, Leslie; Brunner, Han G.; Lohmann, Katja; de Voer, Richarda M.; Töpf, Ana; Vissers, Lisenka E.L.M.; Beltran, Sergi; Hoischen, Alexander
Nature Medicine. 31(2):478-489
Academic Journal
Signorelli, Mirko; Ayoglu, Burcu; Johansson, Camilla; Lockmüller, Hanns; Straub, Volker; Muntoni, Francesco; Niks, Erik H.; Tsonaka, Roula; Aartsma-Rus, Annemieke; Nilsson, Peter; Al-Khalili Szigyarto, Cristina; Spitali, Pietro
Journal of Cachexia, Sarcopenia and Muscle. 11(2):505-517
Academic Journal
Schiava, Marianela; Parkhurst, Yolande; Henderson, Matthew; Polvikoski, Tuomo; Valtcheva, Manouela V.; Nishino, Ichizo; Inoue, Michio; Nishimori, Yukako; Saito, Yoshihiko; Stojkovic, Tanya; Villar-Quiles, Rocio N.; Romero, Norma Beatriz; Evangelista, Teresinha; Malfatti, Edoardo; Souvannanorath, Sarah; Pegoraro, Elena; Riguzzi, Pietro; Monforte, Mauro; Bortolani, Sara; Torchia, Eleonora; Sabatelli, Mario; Tasca, Giorgio; Straub, Volker; Marini-Bettolo, Chiara; Guglieri, Michela; Cetin, Hakan; Gelpi, Ellen; Klotz, Sigrid; De Bleecker, Jan L.; Alonso-Jimenez, Alicia; Baets, Jonathan; De Ridder, Willem; De Jonghe, Peter; Claeys, Kristl G.; Thal, Dietmar Rudolf; Bevilacqua, Jorge A.; Luo, Sushan; Zhu, Wenhua; Lin, Jie; Papadimas, George; Papadopoulos, Constantinos; Zamba-Papanicolaou, Eleni; Xirou, Sophia; Pal, Endre; Rodolico, Carmelo; Kostera-Pruszczyk, Anna; Kierdaszuk, Biruta; Kaminska, Anna; Muelas, Nuria; Vilchez, Juan Jesus; Domínguez-González, Cristina; Hernandez-Lain, Aurelio; Alonso-Perez, Jorge; Nedkova-Hristova, Velina; Aledo, Carlos; Oldfors, Anders; Badrising, Umesh A.; Kushlaf, Hani; Lloyd, Thomas E.; Ikenaga, Chiseko; Alfano, Lindsay N.; Quinn, Colin C.; Walk, David; Vorgerd, Matthias; Weihl, Conrad; Olivé, Montse; Diaz-Manera, Jordi
Neurology Genetics. Jul 16, 2025 11(4)
Academic Journal
Richardson, Mark; Kinet, Virginie; Wong, Karen; Elseed, Maha; Moat, Dionne; Harris, Elizabeth; Michel-Sodhi, Jassi; Bolano-Diaz, Carla; McCallum, Michelle; Robinson, Emma; Schiava, Marianela; Grover, Emma; Salman, Doaa; Guglieri, Michela; Tasca, Giorgio; Ghimenton, Elisabetta; Diaz-Manera, Jordi; Mayhew, Anna; James, Meredith K.; Straub, Volker; Marini-Bettolo, Chiara; Muni-Lofra, Robert
Neuromuscular Disorders. 52
Report
Sen, Anando; Hedley, Victoria; Owen, John; Cornet, Ronald; Kalra, Dipak; Engel, Corinna; Palmeri, Avril; Lee, Joanne; Roze, Jean-Christophe; Standing, Joseph F; Warris, Adilia; Pansieri, Claudia; Leary, Rebecca; Turner, Mark; Straub, Volker
Journal of the Society of Clinical Data Management, Volume 2, Issue 3, 2023
Conference
2021 Optical Fiber Communications Conference and Exhibition (OFC) Optical Fiber Communications Conference and Exhibition (OFC), 2021. :1-3 Jun, 2021
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