학술논문
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'학술논문'
에서 검색결과 814건 | 목록
1~20
Academic Journal
Ulrik Kristoffer Stoltze; Thomas van Overeem Hansen; Jon Foss-Skiftesvik; Anna Byrjalsen; Kasper Amund Henriksen; Adrian Otamendi Laspiur; Anne-Marie Gerdes; Sisse Rye Ostrowski; Erik Sørensen; Mads Bak; Charlotte Kvist Lautrup; Karen Grønskov; Elena Papaleo; Henrik Hasle; Torben Stamm Mikkelsen; Peder Wehner; Astrid Brix Saksager; Mette Klarskov Andersen; Mimi Kjærsgaard; Tina Duelund Hjortshøj; Jane Hübertz Frederiksen; David Scheie; Tina Elisabeth Olsen; Ruta Tuckuviene; Marianne Olsen; Zeynep Tümer; Rene Mathiasen; Jesper Brok; Astrid Sehested; Bram L. Gorissen; Simon Rasmussen; Konrad J. Karczewski; Lisa L. Hjalgrim; Karin A.W. Wadt; Kjeld Schmiegelow
Clinical Cancer Research. :OF1-OF15
Academic Journal
BMC Health Services Research. 25(1)
Academic Journal
Clin Genet
Tümer , Z, Dalsberg, J, Rønde, G, Sørensen, J K & Østergaard, E 2025, ' A Novel UPF1 Variant Associated With a Rare UPF1-Related Neurodevelopmental Disorder ', Clinical Genetics, vol. 108, no. 3, pp. 313-317 . https://doi.org/10.1111/cge.14735
Academic Journal
Clinical Genetics. 107:559-563
Academic Journal
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
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z,Tümer , Z, Hammer-Hansen, S, Krüger Sølyst, S, Steigerwald, C G, Abreu, N J, Faust, H, Müller-Nedebock, A, Tran Mau-Them, F, Sticht, H & Zweier, C 2025, ' Further delineation of the SCAF4-associated neurodevelopmental disorder ', European Journal of Human Genetics, vol. 33, no. 5, pp. 588-594 . https://doi.org/10.1038/s41431-024-01760-2
European Journal of Human Genetics, 33, 5, pp. 588-594
European journal of human genetics, vol. 33, no. 5, pp. 588-594
Schmid, C M, Gregor, A, Ruiz, A, Manso Bazús, C, Herman, I, Ammouri, F, Kotzaeridou, U, McNiven, V, Dupuis, L, Steindl, K, Begemann, A, Rauch, A, Suter, A A, Isidor, B, Mercier, S, Nizon, M, Cogné, B, Deb, W, Besnard, T, Haack, T B, Falb, R J, Müller, A J, Linden, T, Haldeman-Englert, C R, Ockeloen, C W, Mattioli, F, Reymond, A, Ibrahim, N, Naz, S, Lacaze, E, Bassetti, J A, Hoefele, J, Brunet, T, Riedhammer, K M, Elloumi, H Z, Person, R, Zou, F, Kahle, J J, Cremer, K, Schmidt, A, Delrue, M A, Almeida, P M, Ramos, F, Srivastava, S, Quinlan, A, Robertson, S, Manka, E, Kuechler, A, Spranger, S, Nowaczyk, M J M, Elshafie, R M, Alsharhan, H, Hillman, P R, Dunnington, L A, Braakman, H M H, McKee, S, Moresco, A, Ignat, A D, Newbury-Ecob, R, Banneau, G, Patat, O, Kuerbitz, J, Rzucidlo, S, Sell, S S, Gordon, P, Schuhmann, S, Reis, A, Halleb, Y, Stoeva, R, Keren, B, Al Masseri, Z,
Academic Journal
Hildonen, Mathis; Ciolfi, Andrea; Ferilli, Marco; Cappelletti, Camilla; Al Alam, Chadi; Amor, David J.; Barakat, Tahsin Stefan; Benoit, Valérie; Birk, Ohad Shmuel; Callewaert, Bert; Cazurro-Gutiérrez, Ana; De Wachter, Matthias; Doco-Fenzy, Martine; Gómez-Puertas, Paulino; Hammer, Trine Bjørg; Jamra, Rami Abou; Kaiyrzhanov, Rauan; Kameyama, Shinichi; Keren, Boris; Kresge, Christina; Krey, Ilona; Lederer, Damien; Marcos-Alcalde, Iñigo; Maroofian, Reza; Matsumoto, Naomichi; Mizuguchi, Takeshi; Moey, Lip-Hen; Morgan, Angela; Munell, Francina; Platzer, Konrad; Pletcher, Beth A.; Ros-Pardo, David; Rumping, Lynne; Szakszon, Katalin; Van Schil, Kristof; Verdura, Edgard; Vogt, Julie; Wassmer, Evangeline; Zamani, Mina; Tümer, Zeynep; Tartaglia, Marco
European Journal of Human Genetics. :1-8
Academic Journal
Angelica Maria Delgado-Vega; Helene Cederroth; Fulya Taylan; Katja Ekholm; Marlene Ek; Håkan Thonberg; Anders Jemt; Daniel Nilsson; Jesper Eisfeldt; Kristine Bilgrav Saether; Ida Höijer; Ozlem Akgun-Dogan; Yui Asano; Tahsin Stefan Barakat; Dominyka Batkovskyte; Gareth Baynam; Olaf Bodamer; Wanna Chetruengchai; Pádraic Corcoran; Madeline Couse; Daniel Danis; German Demidov; Eisuke Dohi; Mattias Erhardsson; Luis Fernandez-Luna; Toyofumi Fujiwara; Neha Garg; Roberto Giugliani; Claudia Gonzaga-Jauregui; Giedre Grigelioniene; Tudor Groza; Cecilia Gunnarsson; Anna Hammarsjö; Charles Kumi Hammond; Özden Hatirnaz Ng; Sirisha Hesketh; Dineshani Hettiarachchi; Maria Johansson Soller; Umn Ahmed Kirmani; Martin Kjellberg; Malin Kvarnung; Oleg Kvlividze; Kristina Lagerstedt-Robinson; Paul Lasko; Timo Lassmann; Lynette Y. S. Lau; Steven Laurie; Weng Khong Lim; Zhandong Liu; Mariya Lysenkova Wiklander; Prince Makay; Alassane Baneye Maiga; Carolina Maya-González; M. Stephen Meyn; Ramprasad Neethiraj; Vincenzo Nigro; Felix Nordgren; Jessica Nordlund; Sara Orrsjö; Jesper Ottosson; Ugur Ozbek; Özkan Özdemir; Clyde Partin; David A. Pearce; Raquel Peck; Annie Pedersen; Maria Pettersson; Monnat Pongpanich; Manuel Posada de la Paz; Arun Ramani; Juan Andres Romero; Vanessa I. Romero; Richard Rosenquist; Aung Min Saw; Matthew Spencer; Eva-Lena Stattin; Chalurmpon Srichomthong; Isabel Tapia-Paez; Domenica Taruscio; Julie P. Taylor; Tinatin Tkemaladze; Ian Tully; Zeynep Tümer; Wendy A. G. van Zelst-Stams; Alain Verloes; Emma Västerviga; Sailan Wang; Rachel Yang; Shinya Yamamoto; Vicente A. Yépez; Qing Zhang; Vorasuk Shotelersuk; Samuel Agyei Wiafe; Yasemin Alanay; Lorenzo D. Botto; Salman Kirmani; Aimé Lumaka; Elizabeth Emma Palmer; Ratna Dua Puri; Valtteri Wirta; Anna Lindstrand; Orion J. Buske; Mikk Cederroth; Ann Nordgren
Nature Genetics, 56, 11, pp. 2287-2294
Academic Journal
Francesca Furia; Amanda M. Levy; Miel Theunis; Michael J. Bamshad; Meghan N. Bartos; Emilia K. Bijlsma; Francesco Brancati; Lucile Cejudo; Jessica X. Chong; Chiara De Luca; Sarah Joy Dean; Alena Egense; Himanshu Goel; Adam J. Guenzel; Ulrike Hüffmeier; Eric Legius; Grazia M. S. Mancini; Iñigo Marcos‐Alcalde; Tanguy Niclass; Marc Planes; Sylvia Redon; David Ros‐Pardo; Karen Rouault; Rachel Schot; Sarah Schuhmann; Joseph J. Shen; Alice M. Tao; Isabelle Thiffault; Hilde Van Esch; Ingrid M. Wentzensen; Tahsin Stefan Barakat; Rikke S. Møller; Paulino Gomez‐Puertas; Wendy K. Chung; Elena Gardella; Zeynep Tümer
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L, Chong, J X, De Luca, C, Dean, S J, Egense, A, Goel, H, Guenzel, A J, Hüffmeier, U, Legius, E, Mancini, G M S, Marcos-Alcalde, I, Niclass, T, Planes, M, Redon, S, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, J J, Tao, A M, Thiffault, I, Van Esch, H, Wentzensen, I M, Barakat, T S, Møller, R S, Gomez-Puertas, P, Chung, W K, Gardella, E &Tümer , Z 2024, ' The phenotypic and genotypic spectrum of individuals with mono-or biallelic ANK3 variants ', Clinical Genetics, vol. 106, no. 5, pp. 574-584 . https://doi.org/10.1111/cge.14587
Consejo Superior de Investigaciones Científicas (CSIC)
Furia, F, Levy, A M, Theunis, M, Bamshad, M J, Bartos, M N, Bijlsma, E K, Brancati, F, Cejudo, L, Chong, J X, De Luca, C, Dean, S J, Egense, A, Goel, H, Guenzel, A J, Hüffmeier, U, Legius, E, Mancini, G M S, Marcos-Alcalde, I, Niclass, T, Planes, M, Redon, S, Ros-Pardo, D, Rouault, K, Schot, R, Schuhmann, S, Shen, J J, Tao, A M, Thiffault, I, Van Esch, H, Wentzensen, I M, Barakat, T S, Møller, R S, Gomez-Puertas, P, Chung, W K, Gardella, E &
Academic Journal
Krab, Lianne C.; Marcos-Alcalde, Iñigo; Assaf, Melissa; Balasubramanian, Meena; Bayer Andersen, Janne; Bisgaard, Anne-Marie; Fitzpatrick, David R.; Gudmundsson, Sanna, 1989; Huisman, Sylvia A.; Kalayci, Tugba; Maas, Saskia M.; Martinez, Francisco; McKee, Shane; Menke, Leonie A.; Mulder, Paul A.; Murch, Oliver D.; Parker, Michael; Pie, Juan; Ramos, Feliciano J.; Rieubland, Claudine; Mokry, Jill A. Rosenfeld; Scarano, Emanuela; Shinawi, Marwan; Gomez-Puertas, Paulino; Tümer, Zeynep; Hennekam, Raoul C.
Human Genetics. 139(5):575-592
Academic Journal
Nicolai Kohring Tvergaard; Tinatin Tkemaladze; Tommy Stödberg; Malin Kvarnung; Katrina Tatton‐Brown; Diana Baralle; Zeynep Tümer; Allan Bayat
Tvergaard, N K, Tkemaladze, T, Stödberg, T, Kvarnung, M, Tatton-Brown, K, Baralle, D, Tümer , Z & Bayat, A 2024, ' Unraveling GRIA1 neurodevelopmental disorders : Lessons learned from the p.(Ala636Thr) variant ', Clinical Genetics, vol. 106, no. 4, pp. 427-436 . https://doi.org/10.1111/cge.14577
Academic Journal
Alejandro Parra; Mario Cazalla; Carlos Rodríguez-Antolín; Cristina Silván; Lucía Miranda-Alcaraz; Mónica Mora-Gómez; Natalia Gallego-Zazo; Manuel Rodríguez-Canó; Juan A. Jiménez-Estrada; Pedro Arias; Enrique Galán Gomez; Antonio González-Meneses; Pablo Barbero; Vanesa Lotersztein; Spanish OverGrowth; Mathis Hildonen; Zeynep Tümer; Alfredo Santana; Feliciano Ramos; Víctor L. Ruiz-Perez; Jair Tenorio-Castano; Julián Nevado; David Monk; Pablo Lapunzina
Academic Journal
Efthymiou, Stephanie ; Leo, Cailyn P. ; Deng, Chenghong ; Lin, Sheng-Jia ; Maroofian, Reza ; Lin, Renee ; Karagoz, Irem ; Zhang, Kejia ; Kaiyrzhanov, Rauan ; Scardamaglia, Annarita ; Owrang, Daniel ; Turchetti, Valentina ; Jahnke, Friederike ; Huang, Kevin ; Petree, Cassidy ; Derrick, Anna V. ; Rees, Mark I. ; Alvi, Javeria Raza ; Sultan, Tipu ; Li, Chumei ; Jacquemont, Marie-Line ; Tran-Mau-Them, Frederic ; Valenzuela-Palafoll, Maria ; Sidlow, Rich ; Yoon, Grace ; Morrow, Michelle M. ; Carere, Deanna Alexis ; O'Connor, Mary ; Fleischer, Julie ; Gerkes, Erica H. ; Phornphutkul, Chanika ; Isidor, Bertrand ; Rivier-Ringenbach, Clotilde ; Philippe, Christophe ; Kurul, Semra Hiz ; Soydemir, Didem ; Kara, Bulent ; Sunnetci-Akkoyunlu, Deniz ; Bothe, Viktoria ; Platzer, Konrad ; Wieczorek, Dagmar ; Koch-Hogrebe, Margarete ; Rahner, Nils ; Thuresson, Ann-Charlotte ; Matsson, Hans ; Frykholm, Carina ; Bozdoğan, Sevcan Tuğ ; Bisgin, Atil ; Chatron, Nicolas ; Lesca, Gaetan ; Cabet, Sara ; Tümer, Zeynep ; Hjortshøj, Tina D. ; Rønde, Gitte ; Marquardt, Thorsten ; Reunert, Janine ; Afzal, Erum ; Zamani, Mina ; Azizimalamiri, Reza ; Galehdari, Hamid ; Nourbakhsh, Pardis ; Chamanrou, Niloofar ; Chung, Seo-Kyung ; Suri, Mohnish ; Benke, Paul J. ; Zaki, Maha S. ; Gleeson, Joseph G. ; Calame, Daniel G. ; Pehlivan, Davut ; Yilmaz, Halil I. ; Gezdirici, Alper ; Rad, Aboulfazl ; Abumansour, Iman Sabri ; Oprea, Gabriela ; Bereketoğlu, Muhammed Burak ; Banneau, Guillaume ; Julia, Sophie ; Zeighami, Jawaher ; Ashoori, Saeed ; Shariati, Gholamreza ; Sedaghat, Alireza ; Sabri, Alihossein ; Hamid, Mohammad ; Parvas, Sahere ; Tajudin, Tajul Arifin ; Abdullah, Uzma ; Baig, Shahid Mahmood ; Chung, Wendy K. ; Glazunova, Olga O. ; Sabine, Sigaudy ; Cheema, Huma Arshad ; Zifarelli, Giovanni ; Bauer, Peter ; Sidpra, Jai ; Mankad, Kshitij ; Vona, Barbara ; Fry, Andrew E. ; Varshney, Gaurav K. ; Houlden, Henry ; Fu, Dragony
In The American Journal of Human Genetics 1 May 2025 112(5):1117-1138
Microphthalmia and congenital cataract in two patients with Stickler syndrome type II: a case report
Academic Journal
Ophthalmic Genetics. 45:313-318
Academic Journal
Berardo Rinaldi; Allan Bayat; Linda G Zachariassen; Jia-Hui Sun; Yu-Han Ge; Dan Zhao; Kristine Bonde; Laura H Madsen; Ilham Abdimunim Ali Awad; Duygu Bagiran; Amal Sbeih; Syeda Maidah Shah; Shaymaa El-Sayed; Signe M Lyngby; Miriam G Pedersen; Charlotte Stenum-Berg; Louise Claudia Walker; Ilona Krey; Andrée Delahaye-Duriez; Lisa T Emrick; Krystal Sully; Chaya N Murali; Lindsay C Burrage; Julie Ana Plaud Gonzalez; Mered Parnes; Jennifer Friedman; Bertrand Isidor; Jérémie Lefranc; Sylvia Redon; Delphine Heron; Cyril Mignot; Boris Keren; Mélanie Fradin; Christele Dubourg; Sandra Mercier; Thomas Besnard; Benjamin Cogne; Wallid Deb; Clotilde Rivier; Donatella Milani; Maria Francesca Bedeschi; Claudia Di Napoli; Federico Grilli; Paola Marchisio; Suzanna Koudijs; Danielle Veenma; Emanuela Argilli; Sally Ann Lynch; Ping Yee Billie Au; Fernando Eduardo Ayala Valenzuela; Carolyn Brown; Diane Masser-Frye; Marilyn Jones; Leslie Patron Romero; Wenhui Laura Li; Erin Thorpe; Laura Hecher; Jessika Johannsen; Jonas Denecke; Vanda McNiven; Anna Szuto; Emma Wakeling; Vincent Cruz; Valerie Sency; Heng Wang; Juliette Piard; Fanny Kortüm; Theresia Herget; Tatjana Bierhals; Angelo Condell; Bruria Ben-Zeev; Simranpreet Kaur; John Christodoulou; Amelie Piton; Christiane Zweier; Cornelia Kraus; Alessia Micalizzi; Marina Trivisano; Nicola Specchio; Gaetan Lesca; Rikke S Møller; Zeynep Tümer; Maria Musgaard; Benedicte Gerard; Johannes R Lemke; Yun Stone Shi; Anders S Kristensen
Rinaldi, B, Bayat, A, Zachariassen, L G, Sun, J-H, Ge, Y-H, Zhao, D, Bonde, K, Madsen, L H, Awad, I A A, Bagiran, D, Sbeih, A, Shah, S M, El-Sayed, S, Lyngby, S M, Pedersen, M G, Stenum-Berg, C, Walker, L C, Krey, I, Delahaye-Duriez, A, Emrick, L T, Sully, K, Murali, C N, Burrage, L C, Plaud Gonzalez, J A, Parnes, M, Friedman, J, Isidor, B, Lefranc, J, Redon, S, Heron, D, Mignot, C, Keren, B, Fradin, M, Dubourg, C, Mercier, S, Besnard, T, Cogne, B, Deb, W, Rivier, C, Milani, D, Bedeschi, M F, Di Napoli, C, Grilli, F, Marchisio, P, Koudijs, S, Veenma, D, Argilli, E, Lynch, S A, Au, P Y B, Ayala Valenzuela, F E, Brown, C, Masser-Frye, D, Jones, M, Patron Romero, L, Li, W L, Thorpe, E, Hecher, L, Johannsen, J, Denecke, J, McNiven, V, Szuto, A, Wakeling, E, Cruz, V, Sency, V, Wang, H, Piard, J, Kortüm, F, Herget, T, Bierhals, T, Condell, A, Zeev, B B, Kaur, S, Christodoulou, J, Piton, A, Zweier, C, Kraus, C, Micalizzi, A, Trivisano, M, Specchio, N, Lesca, G, Møller, R S, Tümer , Z, Musgaard, M, Gerard, B, Lemke, J R, Shi, Y S & Kristensen, A S 2024, ' Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes ', Brain, vol. 147, no. 5, pp. 1837-1855 . https://doi.org/10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Rinaldi, Berardo; Bayat, Allan; Zachariassen, Linda G; Sun, Jia-Hui; Ge, Yu-Han; Zhao, Dan; Bonde, Kristine; Madsen, Laura H; Awad, Ilham Abdimunim Ali; Bagiran, Duygu; Sbeih, Amal; Shah, Syeda Maidah; El-Sayed, Shaymaa; Lyngby, Signe M; Pedersen, Miriam G; Stenum-Berg, Charlotte; Walker, Louise Claudia; Krey, Ilona; Delahaye-Duriez, Andrée; Emrick, Lisa T; ... (2024). Gain-of-function and loss-of-function variants in GRIA3 lead to distinct neurodevelopmental phenotypes. Brain : a journal of neurology, 147(5), pp. 1837-1855. Oxford University Press 10.1093/brain/awad403
Academic Journal
Sopio Gverdtsiteli; Trine Bjørg Hammer; Xenia Hermann; Noemi Becser Andersen; David Ros-Pardo; Iñigo Marcos-Alcalde; Paulino Gómez-Puertas; Alan Henry Brook; Asli Silahtaroglu; Zeynep Tümer
Genes (Basel)
Gverdtsiteli, S, Hammer, T B, Hermann, X, Andersen, N B, Ros-Pardo, D, Marcos-Alcalde, I, Gomez-Puertas, P, Brook, A H, Silahtaroglu, A & Tumer, Z 2025, ' ROGDI-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks : A Review and Description of the First Missense Variant ', Genes, vol. 16, no. 10, 1207 . https://doi.org/10.3390/genes16101207
Gverdtsiteli, S, Hammer, T B, Hermann, X, Andersen, N B, Ros-Pardo, D, Marcos-Alcalde, I, Gomez-Puertas, P, Brook, A H, Silahtaroglu, A & Tumer, Z 2025, ' ROGDI-Related Disorder Resulting from Disruption of Complex Interactive Neuro-Dental Developmental Networks : A Review and Description of the First Missense Variant ', Genes, vol. 16, no. 10, 1207 . https://doi.org/10.3390/genes16101207
Academic Journal
Dalsberg, Jonas; Jespersgaard, Cathrine; Levy, Amanda M.; Asplund, Anna Maria; Bagger, Frederik Otzen; Debes, Nanette M.; Tan, Qihua; Tumer, Zeynep; Hildonen, Mathis
Academic Journal
Mackay, Deborah J. G.; Gazdagh, Gabriella; Monk, David; Brioude, Frederic; Giabicani, Eloise; Krzyzewska, Izabela M.; Kalish, Jennifer M.; Maas, Saskia M.; Kagami, Masayo; Beygo, Jasmin; Kahre, Tiina; Tenorio-Castano, Jair; Ambrozaitytė, Laima; Burnytė, Birutė; Cerrato, Flavia; Davies, Justin H.; Ferrero, Giovanni Battista; Fjodorova, Olga; Manero-Azua, Africa; Pereda, Arrate; Russo, Silvia; Tannorella, Pierpaola; Temple, Karen I.; Õunap, Katrin; Riccio, Andrea; de Nanclares, Guiomar Perez; Maher, Eamonn R.; Lapunzina, Pablo; Netchine, Irène; Eggermann, Thomas; Bliek, Jet; Tümer, Zeynep
Clinical Epigenetics. 16(1)
Academic Journal
Epilepsia
Johannesen, K M,Tümer , Z, Weckhuysen, S, Barakat, T S & Bayat, A 2023, ' Solving the unsolved genetic epilepsies : Current and future perspectives ', Epilepsia, vol. 64, no. 12, pp. 3143-3154 . https://doi.org/10.1111/epi.17780
Johannesen, K M,
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