학술논문
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공정이용 지침
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불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
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- ID/PW를 타인에게 양도하거나 타인 계정을 도용하여 이용
- EndNote, Mendeley 등 서지관리 프로그램의 Find Full Text 기능을 이용한 대량 다운로드
- 출판사 콘텐츠를 생성형 AI 시스템에서 활용하는 행위(업로드, 개발, 학습, 프로그래밍, 개선 또는 강화 등)
위반 시 제재
- 출판사에 의한 해당 IP 또는 기관 전체 접속 차단
- 출판사 배상 요구 시 위반자 개인이 배상 책임 부담
'학술논문'
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Academic Journal
Metaxas Vasileios I.; Savvakis Stavros; Dimitroukas Christos; Efthymiou Fotios O.; Panayiotakis George S.
의학물리, 36(4), pp.182-192 Dec, 2025
Report
Sasmal, S.; Efthymiou-Tsironi, M.; Nagda, G.; Fugl, E.; Olsen, L. L.; Krizek, F.; Marcus, C. M.; Vaitiekėnas, S.
Phys. Rev. Lett. 135, 156301 (2025)
Academic Journal
Lioliou, S.; Bitsakos, N.; Vagionaki, K.; Kounali, V; Efthymiou, P.; Pedioti, N.; Pitsikaki, S.; Markakis, G.; Chliaoutakis, J.; Papadakaki, M.
Academic Journal
Salpietro, Vincenzo; Maroofian, Reza; Zaki, Maha S.; Wangen, Jamie; Ciolfi, Andrea; Barresi, Sabina; Efthymiou, Stephanie; Lamaze, Angelique; Aughey, Gabriel N.; Al Mutairi, Fuad; Rad, Aboulfazl; Rocca, Clarissa; Calì, Elisa; Accogli, Andrea; Zara, Federico; Striano, Pasquale; Mojarrad, Majid; Tariq, Huma; Giacopuzzi, Edoardo; Taylor, Jenny C.; Oprea, Gabriela; Skrahina, Volha; Rehman, Khalil Ur; Abd Elmaksoud, Marwa; Bassiony, Mahmoud; El Said, Huda G.; Abdel-Hamid, Mohamed S.; Al Shalan, Maha; Seo, Gohun; Kim, Sohyun; Lee, Hane; Khang, Rin; Issa, Mahmoud Y.; Elbendary, Hasnaa M.; Rafat, Karima; Marinakis, Nikolaos M.; Traeger-Synodinos, Joanne; Ververi, Athina; Sourmpi, Mara; Eslahi, Atieh; Khadivi Zand, Farhad; Beiraghi Toosi, Mehran; Babaei, Meisam; Jackson, Adam; Hannah, Michael G.; Bugiardini, Enrico; Bertini, Enrico; Kriouile, Yamna; El-Khorassani, Mohamed; Aguennouz, Mhammed; Groppa, Stanislav; Karashova, Blagovesta M.; Goraya, Jatinder S.; Sultan, Tipu; Avdjieva, Daniela; Kathom, Hadil; Tincheva, Radka; Banu, Selina; Veggiotti, Pierangelo; Verrotti, Alberto; Lanari, Marcello; Savasta, Salvatore; Macaya, Alfons; Garavaglia, Barbara; Borgione, Eugenia; Papacostas, Savvas; Vikelis, Michail; Chelban, Viorica; Kaiyrzhanov, Rauan; Cortese, Andrea; Sullivan, Roisin; Papanicolaou, Eleni Z.; Dardiotis, Efthymios; Maqbool, Shazia; Ibrahim, Shahnaz; Kirmani, Salman; Rana, Nuzhat N.; Atawneh, Osama; Lim, Shen-Yang; Zuccotti, Gian V.; Marseglia, Gian L.; Esposito, Susanna; Shaikh, Farooq; Cogo, Paola; Corsello, Giovanni; Mangano, Salvatore; Nardello, Rosaria; Mangano, Donato; Scardamaglia, Annarita; Koutsis, George; Scuderi, Carmela; Ferrara, Pietro; Morello, Giovanna; Zollo, Massimo; Berni-Canani, Roberto; Terracciano, Luigi M.; Sisto, Antonio; Di Fabio, Sandra; Strano, Federica; Scorrano, Giovanna; Di Bella, Saverio; Di Francesco, Ludovica; Manizha, Ganieva; Isrofilov, Maksud; Guliyeva, Ulviyya; Salayev, Kamran; Khachatryan, Samson; Xiromerisiou, Georgia; Spanaki, Cleanthe; Fiorillo, Chiara; Iacomino, Michele; Gaudio, Eugenio; Munell, Francina; Gagliano, Antonella; Jan, Farida; Chimenz, Roberto; Gitto, Eloisa; Iughetti, Lorenzo; Di Rosa, Gabriella; Maghnie, Mohamad; Pettoello-Mantovani, Massimo; Gupta, Neerja; Kabra, Madhulika; Benrhouma, Hanene; Tazir, Meriem; Bottone, Gabriella; Farello, Giovanni; Delvecchio, Maurizio; Di-Donato, Giulio; Obeid, Makram; Bakhtadze, Sophia; Saadi, Nebal W.; Miraglia-Del-Giudice, Michele; Maccarone, Rita; Triki, Chahnez C.; Kara, Majdi; Karimiani, Ehsan G.; Salih, Ahmed M.; Ramenghi, Luca A.; Seri, Marco; Di-Falco, Giovanna; Mandarà, Luana; Barrano, Giuseppe; Elisa, Maurizio; Cherubini, Enrico; Operto, Francesca F.; Valenzise, Mariella; Cattaneo, Antonino; Zazzeroni, Francesca; Alesse, Edoardo; Matricardi, Sara; Zafar, Faisal; Ullah, Ehsan; Afzal, Erum; Rahman, Fatima; Ahmed, Muhammad M.; Parisi, Pasquale; Spalice, Alberto; De Filippo, Maria; Licari, Amelia; Trebbi, Edoardo; Romano, Ferdinando; Heimer, Gali; Al-Khawaja, Issam; Al-Mutairi, Fuad; Alkuraya, Fowzan S.; Rizig, Mie; Shashkin, Chingiz; Zharkynbekova, Nazira; Koneyev, Kairgali; Bertoli-Avella, Aida; Pagnamenta, Alistair T.; Niceta, Marcello; Battini, Roberta; Corsello, Antonio; Leoni, Chiara; Chiarelli, Francesco; Dallapiccola, Bruno; Faqeih, Eissa Ali; Tallur, Krishnaraya K.; Alfadhel, Majid; Alobeid, Eman; Maddirevula, Sateesh; Mankad, Kshitij; Banka, Siddharth; Ghayoor-Karimiani, Ehsan; Tartaglia, Marco; Chung, Wendy K.; Green, Rachel; Jepson, James E. C.; Houlden, Henry
Am J Hum Genet
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
SYNAPS Study Group 2024, 'Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome', American Journal of Human Genetics, vol. 111, no. 1, pp. 200-210. https://doi.org/10.1016/j.ajhg.2023.11.012
Academic Journal
2020 Tijdschrift voor Constitutioneel Recht 221 (2020) / Tijdschrift voor Constitutioneel Recht (TvCR), Vol. 2020, Issue 2 (2020), pp. 221-234
Academic Journal
Daniel A. Ruiz-Torres; Ross D. Merkin; Michael E. Bryan; Julia Mendel; Vasileios Efthymiou; Thomas Roberts; Manisha J. Patel; Jong C. Park; Amber Chevalier; Clodagh Murray; Lisa Gates; Christodoulos Pipinikas; Shannon L. Stott; Adam S. Fisch; Lori J. Wirth; Daniel L. Faden
npj Precision Oncology, Vol 9, Iss 1, Pp 1-9 (2025)
Academic Journal
2019 Tijdschrift voor Constitutioneel Recht 24 (2019) / Tijdschrift voor Constitutioneel Recht (TvCR), Vol. 2019, Issue 1 (January 2019), pp. 24-50
Academic Journal
Pract Neurol
Academic Journal
Beth L. Woodward; Sudipta Lahiri; Anoop S. Chauhan; Marcos Rios Garcia; Lucy E. Goodley; Thomas L. Clarke; Mohinder Pal; Angelo Agathanggelou; Satpal S. Jhujh; Anil N. Ganesh; Fay M. Hollins; Valentina Galassi Deforie; Reza Maroofian; Stephanie Efthymiou; Andrea Meinhardt; Christopher G. Mathew; Michael A. Simpson; Heather C. Mefford; Eissa A. Faqeih; Sergio D. Rosenzweig; Stefano Volpi; Gigliola Di Matteo; Caterina Cancrini; Annarita Scardamaglia; Fiona Shackley; E. Graham Davies; Shahnaz Ibrahim; Peter D. Arkwright; Maha S. Zaki; Tatjana Stankovic; A. Malcolm R. Taylor; Antonina J. Mazur; Nataliya Di Donato; Henry Houlden; Eli Rothenberg; Grant S. Stewart
Nature Communications, Vol 16, Iss 1, Pp 1-20 (2025)
Academic Journal
Ceccato, Adrian; Scheer, Christian S.; Ferrer, Ricard; Martinez, Maria Luisa; Cisteró, Berta; Yébenes, Juan Carlos; Trenado, Josep; Lorencio, Carol; Linder, Adam; Filipescu, Daniela; Idelevich, Evgeny A.; Giamarellos-Bourboulis, Evangelos J.; Artigas, Antonio; Scharf, A.; Leoniuk, Adam; Cataldo, Adriana; Dąbkowska, Agata; Głusek, Agneverszka; Ioakeimidou, Aikaterini; Beishuizen, Albertus; Szczepańska, Aldona; Martin-Quiros, Alejandro; Rodriguez, Alejandro; Oliva, Alessandra; Manfredi, Alessandro; Franceschi, Alessia; Bertini, Alessio; Maroccia, Alessio; Koch, Alexander; Nicko, Alexander; Bleibtreu, Alexandre; Rezaei, Ali; Kazachonak, Aliaksei; Bartkowska-Śniatkowska, Alicja; Tosoni, Alvise; Daverio, Marco; Bártolo, Anabela; Harabor, Anamaria; Akpabie, Anani; Carsetti, Andrea; Magaard, Andrea; Ekman, Andreas; Hecker, Andreas; Nowak, Andreas; Ostermeier, Andreas; Prengel, Andreas; Sielenkämper, Andreas; Thierbach, Andreas; Krystopchuk, Andriy; Pihowicz, Andrzej; Crombach, A. Neverk; Liebke, Angela; Lukic, Anita; Heymann, Anja; Baßeler, Sebastian; Lange, Anja-Tamara; Antes-żupa, Anna; Efthymiou, Anna; Eklund, Anna; Lukaszewska, Anna; Meuronen, Anna; Radlińska, Anna; Rekas-Dudziak, Anna; Tacx, Annelies; Pulkkinen, Anni; Lassen, Annmarie; Frattari, Antonella; Viola, Antonella; Carneiro, Antonio; Mäkelä, Antti; Paulus, Arion-Björn; Sablotzki, Armin; Seibel, Armin; Röhrs, Arne; Chalkias, Athanasios; Neverrhaus, Axel; Anuszkiewicz, B.; Kadar, Balazs; Michelangelo, Bartolo; Sasko, Benjamin; Müllejans, Bernd; Birmes, Bernhard; Gottschlich, Birgit; Mustac-Hlebec, Biserka; Jäschke, Björn; Sakakushev, Boris E.; Duplancic, Bozidar; Van Herendael, Bruno; Ibrahim, Bushra; Mansson, Anna; Rayner, Caitriona; Cosmin, Calancia; Hopper, Carla; Triginer, Carles; Pallotto, Carlo; Lauterbach, Carmen; Romero, Carolina S; Riske, Caroline; Gentili, Caterina; Byhahn, Christian; Keuneke, Christian; Prause, Christian; Schlottke, Christian; Lydon, Christina; Weis, Christine; Büttner, Christoph; Dodt, Christoph; Peter, Christoph; Plank, Christoph; Aveline, Christophe; Barletta, Cinzia; Gutsche, Claudia; Holzbauer, Claudia; Bodolea, Constantin; Thörmer, Cordula; Courjon, Johan; Cobilinschi, Cristian; Honorato, Cristina; Kopitkó, Csaba; Engemann, Dagmar; Corneci, Dan; Bender, DaNeverl; Ionescu, DaNeverla; Orso, DaNeverle; Honan, David; Míra, David; Dörschner, Dietmar; Keller, Dietrich; Schizas, Dimitrios; Bliamplias, Dimitris; Hinz, Dirk; Meininger, Dirk; Annane, Djillali; Schwurack, Astrid; Carine, Dokoula; Einwag, Dominik; Sandesc, Dorel; Van Cotthem, Ilse; Verwulgen, Eefje; Chircov, Elena; Karlafti, Eleni; Riihioja, Elina; Montel, Elisabeth; Rolén, Els-Marie; Sermijn, Erica; Javouhey, Etienne; Schaden, Eva; Winklaar, Eveny; Dimitrov, Evgeni; Nikolaev, Evgeni; Voets, Evy; Zabul, Ewa; López Altimiras, F. Xavier; Caramelli, Fabio; DAcapito, Fabrizio; Catena, Fausto; Llopis, Ferran; Abedinov, Filip; Triest, Filip; Nikolaou, Filippia; Luciani, FIlippo; Moore, Fiona; Berteau, Florian; Prätsch, Florian; Schache, Florian; Seidlitz, Florian; Greco, Francesca; Lelli, Francesca; Fleres, Francesco; Apra, Franco; Fröhlich, Frank; Hendrich, Frank; Schleibach, Frank; Wolffgramm, Frank; Zoerner, Frank; Mewes, Frank-Günter; Klefisch, Frank-R.; Schiöler, Fredrik; Afflerbach, Friedrich; Hahne, Fritz-Ulrich; Nardai, Gabor; Chiriac, Gabriel; Racanelli, Gabriele; Wolz, Gabriele; Bottari, Gabriella; Parisi, Gabriella; Slobodianiuk, Garri; Cadar, Genoveva; Fritz, Georg; Kreuzer, Georg; Notas, George; Sakka, George; Popivanov, Georgi; Klinkmann, Gerd; Ida, Giacinto; Michele, Giannini; Latten, Gideon; Maddalena, Giovanna; Andresen, Gisa; Brisinda, Giuseppe; Lauria, Giuseppe; Angioni, Goffredo; Stenlund, Göran; Płoński, Grzegorz; Oprea, Günther; Kaasjager, H.A.H.; Bouma, H.R.; Mutlak, Haitham; Ekvall, Hakan; Chmelíčková, Hana; Gabriel, Hannes; Nolan, Hassold; Rensing, Hauke; Schlegel-Höfner, Heike; Groth, Heiko; Ruschulte, Heiner; Groesdonk, Heinrich V.; Rüddel, Hendrik; Jansen, Henning; Rueffert, Henrik; Cappellini, Iacopo; Toth, Ibolya; Schanz, Ilka; Hajnal-Gabriela, Illes; Grigoras, Ioana; Orfanos, Ioannis; Osojnik, Irena; RzepNeverwski, Ireneusz; Klaus, Iris; Koper, Iris; Bagiu, Iulia; Morlova, Iulia-Roxana; Herold, Ivan; Pavlić, Ivana; Schindler, Ivo; Mohd, Izzaddin; Kraßler, J.; Miquel Morales, J.; Prokopowicz, Jacek; Packmohr, Jacob; Hoogerwerf, Jacobien; Bilski, Jakub; Beneš, Jan; Breuls, Jan; Castan, Jan; Frič, Jan; Mersmann, Jan; Roesner, Jan P.; Seemann, Jan; Zatloukal, Jan; Baumert, Jan-Hinrich; Meyer, Jan-Jakob; Fastnacht-Böttcher, Jana; Protzel, Jana; Szederjesi, Janos; Gruszczyk, Janusz; Michalak, Janusz; Houser, Jaroslav; Janc, Jarosław; Luboński, Jarosław; Hermid, Javier; Pilar, Javier; Vincent, Jean-Louis; Lanoix, Jean-Philippe; Alsma, Jelmer; Döffert, Jens; Eriksson, Jens; Heidrich, Jens; Soukup, Jens; Neverlsen, Jeppe SA; Pasquier, Jeremie; Svefors, Jesper; Dvorský, Jiří; Klimeš, Jiří; Pařízek, Jiří; Zurek, Jiri; Bartczak, Joanna; Zorska, Joanna; Berkius, Johan; Lindström, Johan; Knotzer, Johann; Hästbacka, Johanna; Rhein, Johannes; Wierzchowska, Jolanta; Weißkirchen, Jona; Sunden-Cullberg, Jonas; Tverring, Jonas; Engel, Jörg; Kappert, Jörg; Rehlinghaus, Jörg; Kovacs, Judit; Schön, Julika; Maelegheer, Karel; Stefańska-Wronka, Karina; Reiter, Karl; Baścik, Katarzyna; Skawińska, Katarzyna; Donadello, Katia; Masjosthusmann, Katja; Müller-Forte, Kay-Lars; Straka, Kelly; Dewitte, Ken; Achmus-Stenz, Kerstin; Jie, Kim; Slieker, Kitty; Kogelmann, Klaus; Mauermann, Knut; Müller, Knut; Nikolaos, Koronakis; Oremus, Kresimir; Nõmm, Kuido; Ljungström, Lars; Witt, Lars; Popa, Laura; Ryan, Laura; Ionescu, Lavinia; van Lelyveld-Haas, Lenneke; Licari, Leo; Valeanu, Liana; Zahradníček, Libor; Samuelsson, Line; Mellhammar, Lisa; Hasak, Liudmila; Vladoiu, Livia; Kämmerling, Ludger; Bonavina, Luigi; Ensenat, Luis; Barnas, Lukas; Lörinc, Lukas; Olendrzyński, Łukasz; Rak, Łukasz; Coronel, Lupe; Pfeiffer, Lutz; Gryskova, M.; Schüler, M.; Hult, Maarit; Gawor, Maciej; Miulescu, Magdalena; Wujtewicz, Magdalena; Mikaszewska-Sokoleiwcz, Malgorzata; Morisse, Malte; Hoefler, Manfred; Nuscheler, Manfred; Corina-Cecilia, Manole-Palivan; Beckers, Marc; Bota, Marc; Barchetti, Marco; Ingrosso, Marco; Ripa, Marco; Andersson, Maria; Fortofoiu, Maria; Zach, Maria; Anghele, Mariana; Guarino, Mario; Maciaszek, Mariola; Tałałaj, Mariola; Papurica, Marius; Neufang, Mark; Bressler, Markus; Eller, Markus; Kestler, Markus; Kredel, Markus; Rudnick, Markus; Teipel, Markus; van Tellingen, Martijn; Beiderlinden, Martin; Bier, Martin; Cermak, Martin; Ebert, Martin; Helan, Martin; Kahl, Martin; Metelka, Martin; Reichert, Martin; Schütz, Martin; Spångfors, Martin; Wagner, Martin; Čehulić, Martina; Pavletić, Martina; Gyenge, Marton; Bedding, Mary; Mehdi, Marzouk; Biberič, Maša; Miszczyszyn, Mateusz; Fischer, Mathias; Sprenger, Mathias; Belavić, Matija; Jurjević, Matija; Groznik, Matjaž; Gründling, Matthias; Huck, Matthias; Lutze, Matthias; Menzel, Matthias; Schmauß, Matthias; Weiß, Matthias; Mazzoni, Maurizio; Müller, Max; Souquet, Jochen; Ragaller, Maximilian; Booke, Michael; Buerke, Michael; Dalager-Pedersen, Michael; Dolch, Michael; Fries, Michael; Habenicht, Michael; Kremer, Michael; Meisner, Michael; Meyer, Michael; Pogatschnigg, Michael; Schütz, Michael; Stofkoper, Michael; Holub, Michal; Pelíšek, Michal; Sitina, Michal; Śpiewak, Michał; Ziółkowski, Michał; Behan, Michelle; Blaj, Mihaela; Conci, Mihaela; Lupse, Mihaela; Valtonen, Mika; Moriconi, Mikael; Dagmar, Minaříková; Zajicek, Miroslav; Hasaballah, Mohamed; Unglaube, Moritz; Guimarães, Nádia; Issa, Nahema; Layios, Nathalie; Barros, Nelson; Belaube, Nicolas; Mongardon, Nicolas; Serck, Nicolas; Verbeke, Nikolaas; Lambiris, Nikolas; Rovina, Nikoletta; Haake, Nils; Polze, Nina; Sulen, Nina; Bruns, Nora; Buenen, Noud; Assadian, Ojan; Broch, Ole; Oliwa, Olena; Klementová, Olga; Beck, Oliver; Habler, Oliver; Hensel, Oliver; Kunitz, Oliver; Schmid, Oliver; Blivik, Olof; Zika, Ondrej; Mörer, Onnen; Ioannidis, Orestis; Ljungquist, Oskar; Rodari, Paola; Raffaella, Papa; Lindgren, Pär; Stammet, Pascal; Minchella, Pasquale; Patricio, Patricia; Gille-Johnson, Patrik; Petricci, Patrizia; Pestana, Paula; Vera, Paula; Dostal, Pavel; Malina, Pavel; Sedlák, Pavel; Brand, Peter; Neumann, Peter; Hubacek, Petr; Stepanek, Petr; Uhlig, Petr; Wegermann, Petra; Tsafoulis, Philipp; Fillatre, Pierre; Tattevin, Pierre; Faust, Pio; Czempik, Piotr; Smuszkiewicz, Piotr; StaNeverwski, Piotr; Calligaro, Plinio; Tassioudis, Polychronis; Dörr, Přemysl; Michalski, Przemysław; Klimaschewski, R.; Schnabel, R.; Cihlář, Radek; Gałuszka, Rafał; Wójtowicz, Rafał; Haas, Rainer; Walper, Ralf; Budnik, Ralph; Sander, Ralph; Gukasjan, Raphael; Sitzler, Reiner; Cartuyvels, Reinoud; Szmigielska, Renata; Koch, Renate; Verbeek, René; Castelbón, Ricardo; Wilting, Rob; Bocek, Robert; Janda, Robert; Moretti, Roberta; Jouffroy, Romain; Larcher, Romaric; Seidel, Ronald; Ungurean, Roxana; Albrecht, Rüdiger; Lott, Rüdiger; Terras, Rui; Müller, Ruth; Tokarczuk, Ryszard; Kumpulainen, Salla; Mäenpää, Sami; Müller, Sandra; Donovan, Sandra O; Pohjanpaju, Sanna; Cajander, Sara; Ussat, Sascha; Angela, Saviano; Brandt, Sebastian; Casu, Sebastian; Hafner, Sebastian; Hammerich, Sebastian; Rehberg, Sebastian; Tranca, Sebastian; Knoth, Selena; Mashayekhi, Shahram; Fitzgerald, Shona; Pilia, Silvana; Koivisto, Simo-Pekka; Oelsner, Simon; Schäfer, Simon; Barnini, Simona; Viola, Simona; Tudor, Simu; ONeill, Sinead; Boye, Söhnke; Krofak, Sonja; Savino, Spadaro; Tevell, Staffan; Angermair, Stefan; Bergt, Stefan; Markoff, Stefan; Ostmeier, Stefan; Otto, Stefan; Wirtz, Stefan P.; Rußwurm, Stefan; Schroeder, Stefan; Staar, Stefan; Vandervelden, StefaNever; Trapassi, Stefano; Volkert, Steffen; Bendel, Stepani; Baumann, Stephan; Blache, Stephan; Koster, StephaNever; Mifsud, StephaNever; Jagoda, Sunil; 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2017 Tijdschrift voor Constitutioneel Recht 271 (2017) / Tijdschrift voor Constitutioneel Recht (TvCR), Vol. 2017, Issue 3 (July 2017), pp. 271-277
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Lei Su; Jonathan M. Dreyfuss; Rafael Ferraz Bannitz; Danielle Wolfs; Georgia Hansbury; Lauren Richardson; Charnice Charmant; Jay Patel; Elizabeth S. Ginsburg; Catherine Racowsky; Ruby Fore; Vissarion Efthymiou; Jessica Desmond; Allison Goldfine; Anne Ferguson-Smith; Hui Pan; Marie-France Hivert; Elvira Isganaitis; Mary Elizabeth Patti
Clinical Epigenetics, Vol 17, Iss 1, Pp 1-15 (2025)
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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
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Lama Alabdi; Norah Altuwaijri; Jun-yi Zhu; Stephanie Efthymiou; Hangnoh Lee; Jianli Duan; Israa Salem; Piao Yu; Nor Linda Abdullah; Fatema Alzahrani; Qing Xu; Mashael M. Felemban; Abdullah Alfaifi; Fatima Rahman; Marilena Christoforou; Shazia Maqbool; Julian A. Martinez-Agosto; Hessa S. Alsaif; Mais Hashem; Rana Helaby; Ahood Alsulaiman; Reza Maroofian; Henry Houlden; Stefan T. Arold; Leena A. Ibrahim; Zhe Han; Fowzan S. Alkuraya; Stanislav Groppa; Blagovesta Marinova Karashova; Wolfgang Nachbauer; Sylvia Boesch; Larissa Arning; Dagmar Timmann; Bru Cormand; Belen Pérez-Dueñas; Gabriella Di Rosa; Jatinder S. Goraya; Tipu Sultan; Jun Mine; Daniela Avdjieva; Hadil Kathom; Radka Tincheva; Selina Banu; Mercedes Pineda-Marfa; Pierangelo Veggiotti; Michel D. Ferrari; Alberto Verrotti; Giangluigi Marseglia; Salvatore Savasta; Mayte García-Silva; Alfons Macaya Ruiz; Barbara Garavaglia; Eugenia Borgione; Simona Portaro; Benigno Monteagudo Sanchez; Richard Boles; Savvas Papacostas; Michail Vikelis; Eleni Zamba Papanicolaou; Efthymios Dardiotis; Shahnaz Ibrahim; Salman Kirmani; Nuzhat Noureen Rana; Osama Atawneh; George Koutsis; Marianthi Breza; Salvatore Mangano; Carmela Scuderi; Giovanna Morello; Tanya Stojkovic; Massimo Zollo; Gali Heimer; Yves A. Dauvilliers; Pasquale Striano; Issam Al-Khawaja; Fuad Al-Mutairi; Sherifa Ahmed Hamed; Mohamed A. Abd El Hamed; Samson Khachatryan; Ulviyya Guliyeva; Sughra Guliyeva; Kamran Salayev; Georgia Xiromerisiou; Liana Fidani; Cleanthe Spanaki; Mhammed Aguennouz; Gabriella Silvestri; Chingiz Shashkin; Nazira Zharkynbekova; Kairgali Koneyev; Abdullah Al-Ajmi; Shen-Yang Lim; Farooq Shaikh; Mohamed El Khorassani; Arn M.J.M. van den Maagdenberg; Njideka U. Okubadejo; Oluwadamilola O. Ojo; Kolawole Wahab; Abiodun H. Bello; Sanni Abubakar; Yahaya Obiabo; Ernest Nwazor; Oluchi Ekenze; Uduak Williams; Alagoma Iyagba; Lolade Taiwo; Morenikeji Komolafe; Olapeju Oguntunde; Konstantin Senkevich; Ganieva Manizha; Maksud Isrofilov; Erin Torti; Maha Zaki; Hoda Tomoum; Amira Nabil; Paola Nicolaides; Shahzad Haider; Dana Hasbini; Chadi el Alam; Mona Huneineh; Faisal Zafar; Erum Afzal; Ilyas Muhammad; Atchayaram Nalini; Sofia Bakhtaze; Shahid Baig; Ben Issa; Chahnez Triki; Mussa Bassam; Dana Craiou; Meriem Tazir; Lamia Ali Patcha; Nebal Waill Saadi; Hanene Benrhouma; Payam Saraf; Khalid Hama Salih; Awatif
EBioMedicine, Vol 116, Iss , Pp 105725- (2025)
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Nature Communications, Vol 16, Iss 1, Pp 1-24 (2025)
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Laurie, S.; Steyaert, W.A.R.; de Boer, E.; Polavarapu, K.; Schuermans, N.; Sommer, A.K.; Demidov, G.; Ellwanger, K.; Paramonov, I.; Thomas, C.; Aretz, S.; Baets, J.; Benetti, E.; Bullich, G.; Chinnery, P.F.; Clayton-Smith, J.; Cohen, E.; Danis, D.; de Sainte Agathe, J.M.; Denommé-Pichon, A.S.; Diaz-Manera, J.; Efthymiou, S.; Faivre, L.; Fernandez-Callejo, M.; Freeberg, M.; Garcia-Pelaez, J.; Guillot-Noel, L.; Haack, T.B.; Hanna, M.; Hengel, H.; Horvath, R.; Houlden, H.; Jackson, A.; Johansson, L.; Johari, M.; Kamsteeg, E.J.; Kellner, M.; Kleefstra, T.; Lacombe, D.; Lochmüller, H.; López-Martín, E.; Macaya, A.; Marcé-Grau, A.; Maver, A.; Morsy, H.; Muntoni, F.; Musacchia, F.; Nelson, I.; Nigro, V.; Olimpio, C.; Oliveira, C.; Paulasová Schwabová, J.; Pauly, M.G.; Peterlin, B.; Peters, Sophia; Pfundt, R.P.; Piluso, G.; Piscia, D.; Posada, M.; Reich, S.; Renieri, A.; Ryba, L.; Sablauskas, K.; Savarese, M.; Schöls, L.; Schütz, L.; Steinke-Lange, V.; Stevanin, G.; Straub, V.; Sturm, M.; Swertz, M.A.; Tartaglia, M.; te Paske, I.B.A.W.; Thompson, R.; Torella, A.; Trainor, C.; Udd, B.; Van de Vondel, L.; van de Warrenburg, B.P.C.; van Reeuwijk, J.; Vandrovcova, J.; Vitobello, A.; Vos, J.R.; Vyhnálková, E.; Wijngaard, R.; Wilke, C.; William, D.; Xu, Jishu; Yaldiz, B.; Zalatnai, L.; Zurek, B.; Brookes, A.J.; Evangelista, T.; Gilissen, C.F.H.A.; Graessner, H.; Hoogerbrugge, N.; Ossowski, S.; Riess, O.; Schüle, R.; Synofzik, M.; Verloes, A.; Matalonga, L.; Brunner, H.G.; Lohmann, K.; de Voer, R.M.; Töpf, A.; Vissers, L.E.L.M.; Beltran, S.; Hoischen, A.
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Ardizzone, V.; Riminucci, F.; Zanotti, S.; Gianfrate, A.; Efthymiou-Tsironi, M.; Suarez-Forero, D. G.; Todisco, F.; De Giorgi, M.; Trypogeorgos, D.; Gigli, G.; Nguyen, H. S.; Baldwin, K.; Pfeiffer, L.; Ballarini, D.; Gerace, D.; Sanvitto, D.
Nature 605 447-452 (2022)
Academic Journal
Banks, Emily; Francis, Vincent; Lin, Sheng-Jia; Kharfallah, Fares; Fonov, Vladimir; Lévesque, Maxime; Han, Chanshuai; Kulasekaran, Gopinath; Tuznik, Marius; Bayati, Armin; Al-Khater, Reem; Alkuraya, Fowzan S.; Argyriou, Loukas; Babaei, Meisam; Bahlo, Melanie; Bakhshoodeh, Behnoosh; Barr, Eileen; Bartik, Lauren; Bassiony, Mahmoud; Bertrand, Miriam; Braun, Dominique; Buchert, Rebecca; Budetta, Mauro; Cadieux-Dion, Maxime; Calame, Daniel G.; Cope, Heidi; Cushing, Donna; Efthymiou, Stephanie; Elmaksoud, Marwa Abd; El Said, Huda G.; Froukh, Tawfiq; Gill, Harinder K.; Gleeson, Joseph G.; Gogoll, Laura; Goh, Elaine S.-Y.; Gowda, Vykuntaraju K.; Haack, Tobias B.; Hashem, Mais O.; Hauser, Stefan; Hoffman, Trevor L.; Hogue, Jacob S.; Hosokawa, Akimoto; Houlden, Henry; Huang, Kevin; Huynh, Stephanie; Karimiani, Ehsan G.; Kaulfuß, Silke; Korenke, G. Christoph; Kritzer, Amy; Lee, Hane; Lupski, James R.; Marco, Elysa J.; McWalter, Kirsty; Minassian, Arakel; Minassian, Berge A.; Murphy, David; Neira-Fresneda, Juanita; Northrup, Hope; Nyaga, Denis M.; Oehl-Jaschkowitz, Barbara; Osmond, Matthew; Person, Richard; Pehlivan, Davut; Petree, Cassidy; Sadleir, Lynette G.; Saunders, Carol; Schoels, Ludger; Shashi, Vandana; Spillmann, Rebecca C.; Srinivasan, Varunvenkat M.; Torbati, Paria N.; Tos, Tulay; Zaki, Maha S.; Zhou, Dihong; Zweier, Christiane; Trempe, Jean-François; Durcan, Thomas M.; Gan-Or, Ziv; Avoli, Massimo; Alves, Cesar; Varshney, Gaurav K.; Maroofian, Reza; Rudko, David A.; McPherson, Peter S.
Nature Communications. 15(1)
Academic Journal
Aughey G; Cali E; Maroofian R; Zaki MS; Pagnamenta AT; Rahman F; Menzies L; Shafique A; Suri M; Roze E; Aguennouz M; Ghizlane Z; Saadi SM; Ali Z; Abdulllah U; Cheema HA; Anjum MN; Morel G; McFarland R; Altunoglu U; Kraus V; Shoukier M; Murphy D; Flemming K; Yttervik H; Rhouda H; Lesca G; Murtaza BN; Rehman MU; SYNAPS Study Group; Consortium GE; Seo GH; Beetz C; Kayserili H; Krioulie Y; Chung WK; Naz S; Maqbool S; Gleeson J; Baig SM; Efthymiou S; Taylor JC; Severino M; Jepson JE; Houlden H.
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