학술논문
전자자료 공정이용 안내
우리 대학 도서관에서 구독·제공하는 모든 전자자료(데이터베이스, 전자저널, 전자책 등)는 국내외 저작권법과 출판사와의 라이선스 계약에 따라 엄격하게 보호를 받고 있습니다.
전자자료의 비정상적 이용은 출판사로부터의 경고, 서비스 차단, 손해배상 청구 등 학교 전체에 심각한 불이익을 초래할 수 있으므로, 아래의 공정이용 지침을 반드시 준수해 주시기 바랍니다.
공정이용 지침
- 전자자료는 개인의 학습·교육·연구 목적의 비영리적 사용에 한하여 이용할 수 있습니다.
- 합리적인 수준의 다운로드 및 출력만 허용됩니다. (일반적으로 동일 PC에서 동일 출판사의 논문을 1일 30건 이하 다운로드할 것을 권장하며, 출판사별 기준에 따라 다를 수 있습니다.)
- 출판사에서 제공한 논문의 URL을 수업 관련 웹사이트에 게재할 수 있으나, 출판사 원문 파일 자체를 복제·배포해서는 안 됩니다.
- 본인의 ID/PW를 타인에게 제공하지 말고, 도용되지 않도록 철저히 관리해 주시기 바랍니다.
불공정 이용 사례
- 전자적·기계적 수단(다운로딩 프로그램, 웹 크롤러, 로봇, 매크로, RPA 등)을 이용한 대량 다운로드
- 동일 컴퓨터 또는 동일 IP에서 단시간 내 다수의 원문을 집중적으로 다운로드하거나, 전권(whole issue) 다운로드
- 저장·출력한 자료를 타인에게 배포하거나 개인 블로그·웹하드 등에 업로드
- 상업적·영리적 목적으로 자료를 전송·복제·활용
- 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'
에서 검색결과 1,523건 | 목록
1~20
Academic Journal
L.-L. Becker; L. Jolitz; I. Helbig; S. McKeown Ruggiero; S. Cohen; C. Angelini; E. Vallespin; V. Michaud; A. Gerasimenko; B. Cogne; B. Isidor; B. Keren; D. Dyment; D. Heron; H. Gásdal Karstensen; I. Cuppen; J. Christodoulou; M. Wilson; N. J. Lake; S. Biskup; S. Syrbe; T. Mori; A. M. Kaindl
Neuropediatrics. 56:S1-S24
Academic Journal
Uguen, Kevin; Bergot, Tiffany; Scott-Boyer, Marie Pier; Chapalain, Solène; Desdouets, Camille; Commet, Séverine; Zhu, Changlian, 1964; Xu, Yiran; Wang, Yangong; Roscioli, Tony; Tran-Mau-Them, Frederic; Faivre, Laurence; Maraval, Julien; Delanne, Julian; Denommé-Pichon, Anne Sophie; Vitobello, Antonio; Jost, Céline; Planes, Marc; Hiatt, Susan; Wheeler, Patricia; Gonzaga-Jauregui, Claudia; Wang, Heng; Xin, Baozhong; Sency, Valerie; Kruer, Michael C.; Bakhtiari, Somayeh; Sulem, Patrick; Curry, Cynthia; Prescott, Trine; Strobl-Wildemann, Gertrud; Brunet, Theresa; Doco Fenzy, Martine; Courtin, Thomas; Poirsier, Céline; Bjørg Hammer, Trine; Fenger, Christina D.; MacPherson, Melissa; Izumi, Kosuke; Leonard, Jacqueline; Li, Dong; Zackai, Elaine H.; Glass, Ian A.; Ward, Scott; Campeau, Philippe M.; Borroto, Maria Carla Hermida; Le Moigno, Laurence; Van Esch, Hilde; De Waele, Liesbeth; Calame, Daniel G.; Lupski, James R.; Barcia, Giulia; Peduto, Cristina; Planté-Bordeneuve, Pauline; Dupuis, Lucie; Mendoza-Londono, Roberto; Stavropoulos, Dimitri J.; Gillibert-Duplantier, Jennifer; Besnard, Thomas; Do Souto Ferreira, Laura; Cogné, Benjamin; Bézieau, Stéphane; Droit, Arnaud; Corcos, Laurent; Lippert, Eric; Férec, Claude; Küry, Sebastien; Bernard, Delphine G.
Nature Communications. 17(1)
Academic Journal
van Oirsouw, Amber S. E.; Hadders, Michael A.; Koetsier, Martijn; Peters, Edith D. J.; Batzir, Nurit Assia; Barakat, Tahsin Stefan; Baralle, Diana; Beil, Adelyn; Bonnet-Dupeyron, Marie-Noëlle; Boone, Philip M.; Bouman, Arjan; Carere, Deanna Alexis; Cogne, Benjamin; Dunnington, Leslie; Farach, Laura S.; Genetti, Casie A.; Isidor, Bertrand; Januel, Louis; Joshi, Aakash; Lahiri, Nayana; Lee, Kristen N.; Maya, Idit; McEntagart, Meriel; Northrup, Hope; Pujalte, Mathilde; Richardson, Kate; Walker, Susan; Koeleman, Bobby P. C.; Alders, Mariëlle; van Jaarsveld, Richard H.; Oegema, Renske
Hum Mol Genet
Academic Journal
Sébastien Küry; Janelle E. Stanton; Geeske M. van Woerden; Amélie Bosc-Rosati; Tzung-Chien Hsieh; Lise Bray; Marielle Oloudé; Cory Rosenfelt; Marie Pier Scott-Boyer; Victoria Most; Tianyun Wang; Jonas J. Papendorf; Charlotte de Konink; Wallid Deb; Virginie Vignard; Maja Studencka-Turski; Thomas Besnard; Anna M. Hajdukowicz; Franziska G. Thiel; Sophie Wolfgramm; Laëtitia Florenceau; Silvestre Cuinat; Sylvain Marsac; Yann Verrès; Audrey Dangoumau; Léa Poirier; Ingrid M. Wentzensen; Annabelle Tuttle; Cara Forster; Johanna Striesow; Richard Golnik; Damara Ortiz; Laura Jenkins; Jill A. Rosenfeld; Alban Ziegler; Clara Houdayer; Dominique Bonneau; Erin Torti; Amber Begtrup; Kristin G. Monaghan; Sureni V. Mullegama; Catharina M. L. Nienke Volker-Touw; Koen L. I. van Gassen; Renske Oegema; Mirjam S. de Pagter; Katharina Steindl; Anita Rauch; Ivan Ivanovski; Kimberly McDonald; Emily Boothe; Andrew Dauber; Janice Baker; Noelle Andrea V. Fabie; Raphael A. Bernier; Tychele N. Turner; Siddharth Srivastava; Kira A. Dies; Lindsay C. Swanson; Carrie Costin; Alali Abdulrazak; Rebekah K. Jobling; John Pappas; Rachel Rabin; Dmitriy Niyazov; Anne Chun-Hui Tsai; Karen Kovak; David B. Beck; May Christine V. Malicdan; David R. Adams; Lynne Wolfe; Rebecca D. Ganetzky; Colleen C. Muraresku; Davit Babikyan; Zdeněk Sedláček; Miroslava Hančárová; Andrew T. Timberlake; Hind Al Saif; Berkley Nestler; Kayla King; MJ Hajianpour; Gregory Costain; D’Arcy Prendergast; Chumei Li; David Geneviève; Antonio Vitobello; Arthur Sorlin; Christophe Philippe; Tamar Harel; Ori Toker; Ataf Sabir; Derek Lim; Mark J. Hamilton; Lisa J. Bryson; Elaine Cleary; Sacha Weber; Trevor L. Hoffman; Anna M. Cueto-González; Eduardo F. Tizzano; David Gómez-Andrés; Marta Codina-Solà; Athina Ververi; Efterpi Pavlidou; Alexandros Lambropoulos; Kyriakos Garganis; Marlène Rio; Jonathan Levy; Sarah J. Langas; Anne M. McRae; Mathieu K. Lessard; Maria Daniela D’Agostino; Isabelle De Bie; Meret Wegler; Rami Abou Jamra; Susanne B. Kamphausen; Viktoria Bothe; Lorraine Potocki; Eric Olinger; Yves Sznajer; Elsa Wiame; Michelle L. Thompson; Molly C. Schroeder; Catherine Gooch; Raphael A. Smith; Arti Pandya; Larissa M. Busch; Uwe Völker; Elke Hammer; Kristian Wende; Benjamin Cogné; Bertrand Isidor; Jens Meiler; Clémentine Ripoll; Stéphanie Bigou; Frédéric Laumonnier; Peter W. Hildebrand; Evan E. Eichler; Kirsty McWalter; Peter M. Krawitz; Florence Roux-Dalvai; Ype Elgersma; Julien Marcoux; Marie-Pierre Bousquet; Arnaud Droit; Jeremie Poschmann; Andreas M. Grabrucker; Francois V. Bolduc; Stéphane Bézieau; Frédéric Ebstein; Elke Krüger
Nature Communications, Vol 16, Iss 1, Pp 1-21 (2025)
Academic Journal
Talarico, M; de, Bellescize J; De, Wachter M; Le, Guillou X; le, Meur G; Egloff, M; Isidor, B; Cogne, B; Beysen, D; Rollier, P
GENETICS IN MEDICINE. 27(4):101347-101347
Academic Journal
Gabriele Di Pasquale; Jacopo Colella; Carola P Di Cataldo; Miguel A Soler; Sara Fortuna; Emma Mizrahi-Powell; Mathilde Nizon; Benjamin Cognè; Valentina Turchetti; Giuseppe D Mangano; Francesco F Comisi; Corrado Cecchetti; Alessandra Giliberti; Rosaria Nardello; Piero Pavone; Raffaele Falsaperla; Gabriella Di Rosa; Gilad D Evrony; Maurizio Delvecchio; Mariasavina Severino; Andrea Accogli; Alessandro Vittori; Vincenzo Salpietro
Front Cell Neurosci
Academic Journal
Rots, D.; Choufani, S.; Faundes, V.; Dingemans, A.J.M.; Joss, S.; Foulds, N.; Jones, E.A.; Stewart, S.; Vasudevan, P.; Dabir, T.; Park, S.M.; Jewell, R.; Brown, N.; Pais, L.; Jacquemont, S.; Jizi, K.; Ravenswaaij-Arts, C.M.A.V.; Kroes, H.Y.; Stumpel, C.T.; Ockeloen, C.W.; Diets, I.J.; Nizon, M.; Vincent, M.; Cogné, B.; Besnard, T.; Kambouris, M.; Anderson, E.; Zackai, E.H.; McDougall, C.; Donoghue, S.; O'Donnell-Luria, A.; Valivullah, Z.; O'Leary, M.; Srivastava, S.; Byers, H.; Leslie, N.; Mazzola, S.; Tiller, G.E.; Vera, M.; Shen, J.J.; Boles, R.; Jain, V.; Brischoux-Boucher, E.; Kinning, E.; Simpson, B.N.; Giltay, J.C.; Harris, J.; Keren, B.; Guimier, A.; Marijon, P.; Vries, B.B.A.; Motter, C.S.; Mendelsohn, B.A.; Coffino, S.; Gerkes, E.H.; Afenjar, A.; Visconti, P.; Bacchelli, E.; Maestrini, E.; Delahaye-Duriez, A.; Gooch, C.; Hendriks, Y.; Adams, H.; Thauvin-Robinet, C.; Josephi-Taylor, S.; Bertoli, M.; Parker, M.J.; Rutten, J.W.; Caluseriu, O.; Vernon, H.J.; Kaziyev, J.; Zhu, J.; Kremen, J.; Frazier, Z.; Osika, H.; Breault, D.; Nair, S.; Lewis, S.M.E.; Ceroni, F.; Viggiano, M.; Posar, A.; Brittain, H.; Giovanna, T.; Giulia, G.; Quteineh, L.; Ha-Vinh Leuchter, R.; Zonneveld-Huijssoon, E.; Mellado, C.; Marey, I.; Coudert, A.; Aracena Alvarez, M.I.; Kennis, M.G.P.; Bouman, A.; Roifman, M.; Amorós Rodríguez, M.I.; Ortigoza-Escobar, J.D.; Vernimmen, V.; Sinnema, M.; Pfundt, R.P.; Brunner, H.G.; Vissers, L.E.L.M.; Kleefstra, T.; Weksberg, R.; Banka, S.
American Journal of Human Genetics, 111, 8, pp. 1626-1642
Rots,D , Choufani, S, Faundes, V, Dingemans, A J M, Joss, S, Foulds, N, Jones, E A, Stewart, S, Vasudevan, P, Dabir, T, Park, S-M, Jewell, R, Pais, L, Jacquemont, S, Jizi, K, Ravenswaaij-Arts, C M A V, Kroes, H Y, Stumpel, C T R M, Ockeloen, C W, Diets, I J, Nizon, M, Vincent, M, Cogné , B, Besnard, T, Kambouris, M, Anderson, E, Zackai, E H, McDougall, C, Donoghue, S, O'Donnell-Luria, A, Valivullah, Z, O'Leary, M, Srivastava, S, Byers, H, Leslie, N, Mazzola, S, Tiller, G E, Vera, M, Shen, J J, Boles, R, Jain, V, Brischoux-Boucher, E, Kinning, E, Simpson, B N, Giltay, J C, Harris, J, Keren, B, Guimier, A, Marijon, P, Vries, B B A D , Motter, C S, Mendelsohn, B A, Coffino, S, Gerkes, E H, Afenjar, A, Visconti, P, Bacchelli, E, Maestrini, E, Delahaye-Duriez, A, Gooch, C, Hendriks, Y, Adams, H, Thauvin-Robinet, C, Josephi-Taylor, S, Bertoli, M, Rutten, J W, Caluseriu, O, Vernon, H J, Kaziyev, J, Kremen, J, Frazier, Z, Osika, H, Breault, D , Nair, S, Lewis, S M E, Ceroni, F, Viggiano, M, Posar, A, Brittain, H, Giovanna, T, Giulia, G, Quteineh, L, Ha-Vinh Leuchter, R, Zonneveld-Huijssoon, E, Mellado, C, Marey, I, Coudert, A, Aracena Alvarez, M I, Kennis, M G P, Bouman, A, Roifman, M, Amorós Rodríguez, M I, Ortigoza-Escobar, J D , Vernimmen, V, Sinnema, M, Pfundt, R, Brunner, H G, Vissers, L E L M, Kleefstra, T, Weksberg, R & Banka, S 2024, 'Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes', American Journal of Human Genetics, vol. 111, no. 8, pp. 1626-1642. https://doi.org/10.1016/j.ajhg.2024.06.009, https://doi.org/10.1016/j.ajhg.2024.06.009.
American Journal of Human Genetics, vol 111, iss 8
Rots,
American Journal of Human Genetics, vol 111, iss 8
Book
Albonico C; Gaschino C.; Clerici C.; Marini P.; Cazzola C.; Zanetti G.; Castello P.; Agnesod G.; Operti C.; Zappa C. Roscio F.
Aosta: ARPA Valla d 'Aosta, 2006
info:cnr-pdr/source/autori:Albonico C, Gaschino C., Clerici C., Marini P., Cazzola C., Zanetti G., Castello P., Agnesod G., Operti C., Zappa C. Roscio F./titolo:Ricerca della presenza di amianto e valutazione della radioattività nelle discariche del giacimento minerario diCogne (Valle d Aosta)./editore: /anno:2006
info:cnr-pdr/source/autori:Albonico C, Gaschino C., Clerici C., Marini P., Cazzola C., Zanetti G., Castello P., Agnesod G., Operti C., Zappa C. Roscio F./titolo:Ricerca della presenza di amianto e valutazione della radioattività nelle discariche del giacimento minerario di
Academic Journal
van Oirsouw, Amber S. E.; Nedbalova, Pavla; Hancarova, Miroslava; Prchal, Jan; Prchalova, Darina; Vlckova, Marketa; Bendova, Sarka; Monaghan, Kristin G.; Dyer, Lisa M.; Chen, Yanmin; Carere, Deanna Alexis; te Bogt, Emma A. M.; Fisher, Heather; Scheuerle, Angela E.; Riley, Stephanie; Jain, Mahim; Mu, Weiyi; Bodurtha, Joann N.; van Eerde, Albertien M.; Stokman, Marijn F.; Longo, Nicola; Balasubramanian, Meena; Spiller, Michael; Costain, Gregory; von der Lippe, Charlotte; Tveten, Kristian; Jortveit, Marianne; Holla, Oystein L.; Isidor, Bertrand; Cogne, Benjamin; Glinton, Kevin E.; Vuocolo, Blake; Sierra, Roberta Ann; Angle, Brad; Bontempo, Kelly; Koop, Klaas; Rabin, Rachel; Pappas, John; Staffenberg, David A.; Joset, Pascal; Miny, Peter; Filges, Isabel; Alali, Abdulrazak; Vitalone, Kara; Rosenfeld, Jill A.; Bi, Weimin; Bradbrook, Samuel; Perrier, Renee; Ramanathan, Subhadra; Gold, June-Anne; Bralo, Maria Palomares; Gomez-Cano, Maria Angeles; Olney, Ann Haskins; Nielsen, Shelly; Ziegler, Alban; Bonneau, Dominique; Prouteau, Clement; Bruel, Ange-Line; Caille-Benigni, Charlotte; Lambert, Laetitia; Yu, Andrea C.; Robin, Nathaniel H.; Goodloe, Dana; Fischer, Jan; Porrmann, Joseph; Hennig, Yvonne D.; Jamra, Rami Abou; Herman, Isabella; Johnson, Ivy R.; Herissant, Lucas; Jouret, Guillaume; van Gassen, Koen L. I.; van Binsbergen, Ellen; van der Zwaag, Bert; Kamermans, Alwin; Oegema, Renske; Sedlacek, Zdenek; Fenckova, Michaela; van Jaarsveld, Richard H.
Academic Journal
Kimberley Jade Anderson; Eirny Tholl Thorolfsdottir; Ilana M. Nodelman; Sara Tholl Halldorsdottir; Stefania Benonisdottir; Malak Alghamdi; Naif Almontashiri; Brenda J. Barry; Matthias Begemann; Jacquelyn F. Britton; Sarah Burke; Benjamin Cogne; Ana S.A. Cohen; Carles de Diego Boguñá; Evan E. Eichler; Elizabeth C. Engle; Jill A. Fahrner; Laurence Faivre; Mélanie Fradin; Nico Fuhrmann; Christine W. Gao; Gunjan Garg; Dagmar Grečmalová; Mina Grippa; Jacqueline R. Harris; Kendra Hoekzema; Tova Hershkovitz; Sydney Hubbard; Katrien Janssens; Julie A. Jurgens; Stanislav Kmoch; Cordula Knopp; Meral Aktas Koptagel; Farah A. Ladha; Pablo Lapunzina; Tobias Lindau; Marije Meuwissen; Andreina Minicucci; Emily Neuhaus; Mathilde Nizon; Lenka Nosková; Kristen Park; Chirag Patel; Rolph Pfundt; Pankaj Prasun; Nils Rahner; Nathaniel H. Robin; Carey Ronspies; Jasmin Roohi; Jill Rosenfeld; Margarita Saenz; Carol Saunders; Zornitza Stark; Isabelle Thiffault; Sarah Thull; Danita Velasco; Clara Velmans; Jolijn Verseput; Antonio Vitobello; Tianyun Wang; Karin Weiss; Ingrid M. Wentzensen; Genay Pilarowski; Thor Eysteinsson; Madelyn Gillentine; Kári Stefánsson; Agnar Helgason; Gregory D. Bowman; Hans Tomas Bjornsson
medRxiv
Academic Journal
Mythily Ganapathi; Leticia S. Matsuoka; Michael March; Dong Li; Elly Brokamp; Sara Benito-Sanz; Susan M. White; Katherine Lachlan; Priyanka Ahimaz; Anshuman Sewda; Lisa Bastarache; Amanda Thomas-Wilson; Joan M. Stoler; Nuria C. Bramswig; Julia Baptista; Karen Stals; Florence Demurger; Benjamin Cogne; Bertrand Isidor; Maria Francesca Bedeschi; Angela Peron; Jeanne Amiel; Elaine Zackai; John P. Schacht; Alejandro D. Iglesias; Jenny Morton; Ariane Schmetz; Joy D. Cogan; Verónica Seidel; Stephanie Lucia; Stephanie M. Baskin; Isabelle Thiffault; Christopher T. Gordon; Wendy K. Chung; Sarah Bowdin; Elizabeth Bhoj
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Academic Journal
Burak Tepe; Erica L. Macke; Marcello Niceta; Monika Weisz Hubshman; Oguz Kanca; Laura Schultz-Rogers; Yuri A. Zarate; G. Bradley Schaefer; Jorge Luis Granadillo De Luque; Daniel J. Wegner; Benjamin Cogne; Brigitte Gilbert-Dussardier; Xavier Le Guillou; Eric J. Wagner; Lynn S. Pais; Jennifer E. Neil; Ganeshwaran H. Mochida; Christopher A. Walsh; Nurit Magal; Valerie Drasinover; Mordechai Shohat; Tanya Schwab; Chris Schmitz; Karl Clark; Anthony Fine; Brendan Lanpher; Ralitza Gavrilova; Pierre Blanc; Lydie Burglen; Alexandra Afenjar; Dora Steel; Manju A. Kurian; Prab Prabhakar; Sophie Gößwein; Nataliya Di Donato; Enrico S. Bertini; Maria T. Acosta; Margaret Adam; David R. Adams; Justin Alvey; Laura Amendola; Ashley Andrews; Euan A. Ashley; Mahshid S. Azamian; Carlos A. Bacino; Guney Bademci; Ashok Balasubramanyam; Dustin Baldridge; Jim Bale; Michael Bamshad; Deborah Barbouth; Pinar Bayrak-Toydemir; Anita Beck; Alan H. Beggs; Edward Behrens; Gill Bejerano; Hugo J. Bellen; Jimmy Bennet; Beverly Berg-Rood; Jonathan A. Bernstein; Gerard T. Berry; Anna Bican; Stephanie Bivona; Elizabeth Blue; John Bohnsack; Devon Bonner; Lorenzo Botto; Brenna Boyd; Lauren C. Briere; Elly Brokamp; Gabrielle Brown; Elizabeth A. Burke; Lindsay C. Burrage; Manish J. Butte; Peter Byers; William E. Byrd; John Carey; Olveen Carrasquillo; Thomas Cassini; Ta Chen Peter Chang; Sirisak Chanprasert; Hsiao-Tuan Chao; Gary D. Clark; Terra R. Coakley; Laurel A. Cobban; Joy D. Cogan; Matthew Coggins; F. Sessions Cole; Heather A. Colley; Cynthia M. Cooper; Heidi Cope; William J. Craigen; Andrew B. Crouse; Michael Cunningham; Precilla D'Souza; Hongzheng Dai; Surendra Dasari; Joie Davis; Jyoti G. Dayal; Matthew Deardorff; Esteban C. Dell'Angelica; Katrina Dipple; Daniel Doherty; Naghmeh Dorrani; Argenia L. Doss; Emilie D. Douine; Laura Duncan; Dawn Earl; David J. Eckstein; Lisa T. Emrick; Christine M. Eng; Cecilia Esteves; Marni Falk; Liliana Fernandez; Elizabeth L. Fieg; Paul G. Fisher; Brent L. Fogel; Irman Forghani; William A. Gahl; Ian Glass; Bernadette Gochuico; Rena A. Godfrey; Katie Golden-Grant; Madison P. Goldrich; Alana Grajewski; Irma Gutierrez; Don Hadley; Sihoun Hahn; Rizwan Hamid; Kelly Hassey; Nichole Hayes; Frances High; Anne Hing; Fuki M. Hisama; Ingrid A. Holm; Jason Hom; Martha Horike-Pyne; Alden Huang; Yong Huang; Wendy Introne; Rosario Isasi; Kosuke Izumi; Fariha Jamal; Gail P. Jarvik; Jeffrey Jarvik; Suman Jayadev; Orpa Jean-Marie; Vaidehi Jobanputra; Lefkothea Karaviti; Jennifer Kennedy; Shamika Ketkar; Dana Kiley; Gonench Kilich; Shilpa N. Kobren; Isaac S. Kohane; Jennefer N. Kohler; Deborah Krakow; Donna M. Krasnewich; Elijah Kravets; Susan Korrick; Mary Koziura; Seema R. Lalani; Byron Lam; Christina Lam; Grace L. LaMoure; Brendan C. Lanpher; Ian R. Lanza; Kimberly LeBlanc; Brendan H. Lee; Roy Levitt; Richard A. Lewis; Pengfei Liu; Xue Zhong Liu; Nicola Longo; Sandra K. Loo; Joseph Loscalzo; Richard L. Maas; Ellen F. Macnamara; Calum A. MacRae; Valerie V. Maduro; Rachel Mahoney; Bryan C. Mak; May Christine V. Malicdan; Laura A. Mamounas; Teri A. Manolio; Rong Mao; Kenneth Maravilla; Ronit Marom; Gabor Marth; Beth A. Martin; Martin G. Martin; Julian A. Martínez-Agosto; Shruti Marwaha; Jacob McCauley; Allyn McConkie-Rosell; Alexa T. McCray; Elisabeth McGee; Heather Mefford; J. Lawrence Merritt; Matthew Might; Ghayda Mirzaa; Eva Morava; Paolo M. Moretti; Mariko Nakano-Okuno; Stan F. Nelson; John H. Newman; Sarah K. Nicholas; Deborah Nickerson; Shirley Nieves-Rodriguez; Donna Novacic; Devin Oglesbee; James P. Orengo; Laura Pace; Stephen Pak; J. Carl Pallais; Christina GS. Palmer; Jeanette C. Papp; Neil H. Parker; John A. Phillips; Jennifer E. Posey; Lorraine Potocki; Barbara N. Pusey; Aaron Quinlan; Wendy Raskind; Archana N. Raja; Deepak A. Rao; Anna Raper; Genecee Renteria; Chloe M. Reuter; Lynette Rives; Amy K. Robertson; Lance H. Rodan; Jill A. Rosenfeld; Natalie Rosenwasser; Francis Rossignol; Maura Ruzhnikov; Ralph Sacco; Jacinda B. Sampson; Mario Saporta; Judy Schaechter; Timothy Schedl; Kelly Schoch; C. Ron Scott; Daryl A. Scott; Vandana Shashi; Jimann Shin; Edwin K. Silverman; Janet S. Sinsheimer; Kathy Sisco; Edward C. Smith; Kevin S. Smith; Emily Solem; Lilianna Solnica- Krezel; Ben Solomon; Rebecca C. Spillmann; Joan M. Stoler; Jennifer A. Sullivan; Kathleen Sullivan; Angela Sun; Shirley Sutton; David A. Sweetser; Virginia Sybert; Holly K. Tabor; Amelia L.M. Tan; Queenie K.- G. Tan; Mustafa Tekin; Fred Telischi; Willa Thorson; Cynthia J. Tifft; Camilo Toro; Alyssa A. Tran; Brianna M. Tucker; Tiina K. Urv; Adeline Vanderver; Matt Velinder; Dave Viskochil; Tiphanie P. Vogel; Colleen E. Wahl; Melissa Walker; Stephanie Wallace; Nicole M. Walley; Jennifer Wambach; Jijun Wan; Lee-kai Wang; Michael F. Wangler; Patricia A. Ward; Daniel Wegner; Monika Weisz-Hubshman; Mark Wener; Tara Wenger; Katherine Wesseling Perry; Monte Westerfield; Matthew T. Wheeler; Jordan Whitlock; Lynne A. Wolfe; Kim Worley; Changrui Xiao; Shinya Yamamoto; John Yang; Diane B. Zastrow; Zhe Zhang; Chunli Zhao; Stephan Zuchner; Marco Tartaglia; Eric W. Klee
The American Journal of Human Genetics. 110:774-789
Academic Journal
Sciences Géologiques. Bulletin 26(4):370
Academic Journal
Bulletin du Service de la carte géologique d 'Alsace et de Lorraine 24(4):301
Academic Journal
Bulletin du Service de la carte géologique d 'Alsace et de Lorraine 21(4):323
Academic Journal
Palmer, Elizabeth E.; Pusch, Michael; Picollo, Alessandra; Forwood, Caitlin; Nguyen, Matthew H.; Suckow, Vanessa; Gibbons, Jessica; Hoff, Alva; Sigfrid, Lisa; Megarbane, Andre; Nizon, Mathilde; Cogne, Benjamin; Beneteau, Claire; Alkuraya, Fowzan S.; Chedrawi, Aziza; Hashem, Mais O.; Stamberger, Hannah; Weckhuysen, Sarah; Vanlander, Arnaud; Ceulemans, Berten; Rajagopalan, Sulekha; Nunn, Kenneth; Arpin, Stephanie; Raynaud, Martine; Motter, Constance S.; Ward-Melver, Catherine; Janssens, Katrien; Meuwissen, Marije; Beysen, Diane; Dikow, Nicola; Grimmel, Mona; Haack, Tobias B.; Clement, Emma; McTague, Amy; Hunt, David; Townshend, Sharron; Ward, Michelle; Richards, Linda J.; Simons, Cas; Costain, Gregory; Dupuis, Lucie; Mendoza-Londono, Roberto; Dudding-Byth, Tracy; Boyle, Jackie; Saunders, Carol; Fleming, Emily; El Chehadeh, Salima; Spitz, Marie-Aude; Piton, Amelie; Gerard, Benedicte; Warde, Marie-Therese Abi; Rea, Gillian; McKenna, Caoimhe; Douzgou, Sofia; Banka, Siddharth; Akman, Cigdem; Bain, Jennifer M.; Sands, Tristan T.; Wilson, Golder N.; Silvertooth, Erin J.; Miller, Lauren; Lederer, Damien; Sachdev, Rani; Macintosh, Rebecca; Monestier, Olivier; Karadurmus, Deniz; Collins, Felicity; Carter, Melissa; Rohena, Luis; Willemsen, Marjolein H.; Ockeloen, Charlotte W.; Pfundt, Rolph; Kroft, Sanne D.; Field, Michael; Laranjeira, Francisco E. R.; Fortuna, Ana M.; Soares, Ana R.; Michaud, Vincent; Naudion, Sophie; Golla, Sailaja; Weaver, David D.; Bird, Lynne M.; Friedman, Jennifer; Clowes, Virginia; Joss, Shelagh; Polsler, Laura; Campeau, Philippe M.; Blazo, Maria; Bijlsma, Emilia K.; Rosenfeld, Jill A.; Beetz, Christian; Powis, Zoe; McWalter, Kirsty; Brandt, Tracy; Torti, Erin; Mathot, Mikael; Mohammad, Shekeeb S.; Armstrong, Ruth; Kalscheuer, Vera M.
Molecular Psychiatry. 28(2):668-697
Academic Journal
Heba Morsy; Mehdi Benkirane; Elisa Cali; Clarissa Rocca; Kristina Zhelcheska; Valentina Cipriani; Evangelia Galanaki; Reza Maroofian; Stephanie Efthymiou; David Murphy; Mary O’Driscoll; Mohnish Suri; Siddharth Banka; Jill Clayton-Smith; Thomas Wright; Melody Redman; Jennifer A. Bassetti; Mathilde Nizon; Benjamin Cogne; Rami Abu Jamra; Tobias Bartolomaeus; Marion Heruth; Ilona Krey; Janina Gburek-Augustat; Dagmar Wieczorek; Felix Gattermann; Meriel Mcentagart; Alice Goldenberg; Lucie Guyant-Marechal; Hector Garcia-Moreno; Paola Giunti; Brigitte Chabrol; Severine Bacrot; Roger Buissonnière; Virginie Magry; Vykuntaraju K. Gowda; Varunvenkat M. Srinivasan; Béla Melegh; András Szabó; Katalin Sümegi; Mireille Cossée; Monica Ziff; Russell Butterfield; David Hunt; Georgina Bird-Lieberman; Michael Hanna; Michel Koenig; Michael Stankewich; Jana Vandrovcova; Henry Houlden; J.C. Ambrose; P. Arumugam; E.L. Baple; M. Bleda; F. Boardman-Pretty; J.M. Boissiere; C.R. Boustred; H. Brittain; M.J. Caulfield; G.C. Chan; C.E.H. Craig; L.C. Daugherty; A. de Burca; A. Devereau; G. Elgar; R.E. Foulger; T. Fowler; P. Furió-Tarí; J.M. Hackett; D. Halai; A. Hamblin; S. Henderson; J.E. Holman; T.J.P. Hubbard; K. Ibáñez; R. Jackson; L.J. Jones; D. Kasperaviciute; M. Kayikci; L. Lahnstein; K. Lawson; S.E.A. Leigh; I.U.S. Leong; F.J. Lopez; F. Maleady-Crowe; J. Mason; E.M. McDonagh; L. Moutsianas; M. Mueller; N. Murugaesu; A.C. Need; C.A. Odhams; C. Patch; D. Perez-Gil; D. Polychronopoulos; J. Pullinger; T. Rahim; A. Rendon; P. Riesgo-Ferreiro; T. Rogers; M. Ryten; K. Savage; K. Sawant; R.H. Scott; A. Siddiq; A. Sieghart; D. Smedley; K.R. Smith; A. Sosinsky; W. Spooner; H.E. Stevens; A. Stuckey; R. Sultana; E.R.A. Thomas; S.R. Thompson; C. Tregidgo; A. Tucci; E. Walsh; S.A. Watters; M.J. Welland; E. Williams; K. Witkowska; S.M. Wood; M. Zarowiecki
Genet Med
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M,Cogne , B, Jamra, R A, Bartolomaeus, T, Heruth, M, Krey, I, Gburek-Augustat, J, Wieczorek, D , Gattermann, F, Mcentagart, M, Goldenberg, A, Guyant-Marechal, L, Garcia-Moreno, H, Giunti, P, Chabrol, B, Bacrot, S, Buissonnière, R, Magry, V, Gowda, V K, Srinivasan, V M, Melegh, B, Szabó, A, Sümegi, K, Cossée, M, Ziff, M, Butterfield, R, Hunt, D , Bird-Lieberman, G, Hanna, M, Koenig, M, Stankewich, M, Vandrovcova, J & Houlden, H 2023, 'Expanding SPTAN1 monoallelic variant associated disorders : From epileptic encephalopathy to pure spastic paraplegia and ataxia', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 1, pp. 76-89. https://doi.org/10.1016/j.gim.2022.09.013
Queen Square Genomics, Genomics England Research Consortium, Morsy, H, Benkirane, M, Cali, E, Rocca, C, Zhelcheska, K, Cipriani, V, Galanaki, E, Maroofian, R, Efthymiou, S, O'Driscoll, M, Suri, M, Banka, S, Clayton-Smith, J, Redman, M, Bassetti, J A, Nizon, M,
Academic Journal
Rodriguez-Palmero A.; Boerrigter M. M.; Gomez-Andres D.; Aldinger K. A.; Marcos-Alcalde I.; Popp B.; Everman D. B.; Lovgren A. K.; Arpin S.; Bahrambeigi V.; Beunders G.; Bisgaard A. -M.; Bjerregaard V. A.; Bruel A. -L.; Challman T. D.; Cogne B.; Coubes C.; de Man S. A.; Denomme-Pichon A. -S.; Dye T. J.; Elmslie F.; Feuk L.; Garcia-Minaur S.; Gertler T.; Giorgio E.; Gruchy N.; Haack T. B.; Haldeman-Englert C. R.; Haukanes B. I.; Hoyer J.; Hurst A. C. E.; Isidor B.; Soller M. J.; Kushary S.; Kvarnung M.; Landau Y. E.; Leppig K. A.; Lindstrand A.; Kleinendorst L.; MacKenzie A.; Mandrile G.; Mendelsohn B. A.; Moghadasi S.; Morton J. E.; Moutton S.; Muller A. J.; O'Leary M.; Pacio-Miguez M.; Palomares-Bralo M.; Parikh S.; Pfundt R.; Pode-Shakked B.; Rauch A.; Repnikova E.; Revah-Politi A.; Ross M. J.; Ruivenkamp C. A. L.; Sarrazin E.; Savatt J. M.; Schluter A.; Schonewolf-Greulich B.; Shad Z.; Shaw-Smith C.; Shieh J. T.; Shohat M.; Spranger S.; Thiese H.; Mau-Them F. T.; van Bon B.; van de Burgt I.; van de Laar I. M. B. H.; van Drie E.; van Haelst M. M.; van Ravenswaaij-Arts C. M.; Verdura E.; Vitobello A.; Waldmuller S.; Whiting S.; Zweier C.; Prada C. E.; de Vries B. B. A.; Dobyns W. B.; Reiter S. F.; Gomez-Puertas P.; Pujol A.; Tumer Z.
Genetics in Medicine
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés,D , Aldinger, K A, Marcos-Alcalde, Í, Popp, B, Everman, D B, Lovgren, A K, Arpin, S, Bahrambeigi, V, Beunders, G, Bisgaard, A M, Bjerregaard, V A, Bruel, A L, Challman, T D , Cogné , B, Coubes, C, de Man, S A, Denommé-Pichon, A S, Dye, T J, Elmslie, F, Feuk, L, García-Miñaúr, S, Gertler, T, Giorgio, E, Gruchy, N, Haack, T B, Haldeman-Englert, C R, Haukanes, B I, Hoyer, J, Hurst, A C E, Isidor, B, Soller, M J, Kushary, S, Kvarnung, M, Landau, Y E, Leppig, K A, Lindstrand, A, Kleinendorst, L, MacKenzie, A, Mandrile, G, Mendelsohn, B A, Moghadasi, S, Morton, J E, Moutton, S, Müller, A J, O’Leary, M, Pacio-Míguez, M, Palomares-Bralo, M, Parikh, S, Pfundt, R, Pode-Shakked, B, Rauch, A, Repnikova, E, Revah-Politi, A, Ross, M J, Ruivenkamp, C A L, Sarrazin, E, Savatt, J M, Schlüter, A, Schönewolf-Greulich, B, Shad, Z, Shaw-Smith, C, Shieh, J T, Shohat, M, Spranger, S, Thiese, H, Mau-Them, F T, van Bon, B, van de Burgt, I, van de Laar, I M B H, van Drie, E, van Haelst, M M, van Ravenswaaij-Arts, C M, Verdura, E, Vitobello, A, Waldmüller, S, Whiting, S, Zweier, C, Prada, C E, de Vries, B B A, Dobyns, W B, Reiter, S F, Gómez-Puertas, P, Pujol, A & Tümer, Z 2021, 'DLG4-related synaptopathy : a new rare brain disorder', Genetics in Medicine, vol. 23, no. 5, pp. 888-899. https://doi.org/10.1038/s41436-020-01075-9
Genetics in Medicine, 23, 5, pp. 888-899
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Institut de Recerca Germans Trias i Pujol (IGTP)
Rodríguez-Palmero, A, Boerrigter, M M, Gómez-Andrés,
Genetics in Medicine, 23, 5, pp. 888-899
Academic Journal
Bulletin du Service de la carte géologique d 'Alsace et de Lorraine 20(4):329
Academic Journal
Le Marechal, Marion; Dumez, Pauline; Martinez-Almoyna, Noémie; Azouvi, Philippe; D E Broucker, Thomas; Dubee, Vincent; Dubrule, Lola; Eskenazi, Guillaume; Fillatre, Pierre; Gueit, Isabelle; Martinez-Almoyna, Laurent; Stahl, Jean-Paul; Cogne, Mélanie; Mailles, Alexandra
Infectious Diseases Now. 55:105110
검색 결과 제한하기
제한된 항목
[검색어] Cogne, D.
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어