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 545건 | 목록
1~20
Academic Journal
Kalm, T.; Schob, C.; Völler, H.; Gardeitchik, T.; Gilissen, C.; Pfundt, R.P.; Klöckner, C.; Platzer, K.; Klabunde-Cherwon, A.; Ries, M.; Syrbe, S.; Beccaria, Francesca; Madia, F.; Scala, M.; Zara, F.; Hofstede, F.; Simon, M.E.; van Jaarsveld, R.H.; Oegema, R.; van Gassen, K.L.I.; Holwerda, S.J.B.; Barakat, T.S.; Bouman, A.; van Slegtenhorst, M.; Álvarez, S.; Fernández-Jaén, A.; Porta, J.; Accogli, A.; Mancardi, M.M.; Striano, P.; Iacomino, M.; Chae, J.H.; Jang, SeSong; Kim, S.Y.; Chitayat, D.; Mercimek-Andrews, S.; Depienne, C.; Kampmeier, A.; Kuechler, A.; Surowy, H.; Bertini, E.S.; Radio, F.C.; Mancini, C.; Pizzi, S.; Tartaglia, M.; Gauthier, L.; Genevieve, D.; Tharreau, M.; Azoulay, N.; Zaks-Hoffer, G.; Gilad, N.K.; Orenstein, N.; Bernard, G.; Thiffault, I.; Denecke, J.; Herget, T.; Kortüm, F.; Kubisch, C.; Bähring, R.; Kindler, S.
Am J Hum Genet
American Journal of Human Genetics, 111, 6, pp. 1206-1221
American Journal of Human Genetics, 111, 6, pp. 1206-1221
Academic Journal
McCormick E. M.; Keller K.; Taylor J. P.; Coffey A. J.; Shen L.; Krotoski D.; Harding B.; Alves C. A. P. F.; Ardissone A.; Bai R.; de Barcelos I. P.; Bertini E.; Bluske K.; Christodoulou J.; Clause A. R.; Copeland W. C.; Diaz G. A.; Diodato D.; Dulik M. C.; Enns G.; Feigenbaum A.; Fratter C.; Ghezzi D.; Goldstein A.; Gropman A.; Haas R.; Karaa A.; Koenig M. K.; Monteleone B.; Parikh S.; Duenas B. P.; Rajkumar R.; Saada A.; Saneto R. P.; Sergeant K.; Shoffner J.; Smith C.; Stanley C.; Thiffault I.; Thorburn D.; Walker M.; Wallace D.; Wong L. -J.; Gai X.; Falk M. J.; Zolkipli-Cunningham Z.; Rahman S.
Annals of Neurology. 94:696-712
Academic Journal
Liu, Z. G.; Xin, B. Z.; Smith, I. N.; Sency, V.; Szekely, J.; Alkelai, A.; Shuldiner, A.; Efthymiou, S.; Rajabi, F.; Coury, S.; Brownstein, C. A.; Rudnik-Schoeneborn, S.; Bruel, A. L.; Thevenon, J.; Zeidler, S.; Jayakar, P.; Schmidt, A.; Cremer, K.; Engels, H.; Peters, S. O.; Zaki, M. S.; Duan, R. Z.; Zhu, Changlian, 1964; Xu, Y. R.; Gao, C.; Sepulveda-Morales, T.; Maroofian, R.; Alkhawaja, I. A.; Khawaja, M.; Alhalasah, H.; Houlden, H.; Madden, J. A.; Turchetti, V.; Marafi, D.; Agrawal, P. B.; Schatz, U.; Rotenberg, A.; Rotenberg, J.; Mancini, G. M. S.; Bakhtiari, S.; Kruer, M.; Thiffault, I.; Hirsch, S.; Hempel, M.; Stuehn, L. G.; Haack, T. B.; Posey, J. E.; Lupski, J. R.; Lee, H. Y. P.; Sarn, N. B.; Eng, C.; Gonzaga-Jauregui, C.; Zhang, B.; Wang, H.
Human Molecular Genetics. 32(20):2981-2995
Academic Journal
Helman, G.; Mendes, M. I.; Nicita, F.; Darbelli, L.; Sherbini, O.; Moore, T.; Derksen, A.; Amy, Pizzino; Carrozzo, R.; Torraco, A.; Catteruccia, M.; Aiello, C.; Goffrini, P.; Figuccia, S.; Smith, D. E. C.; Hadzsiev, K.; Hahn, A.; Biskup, S.; Brösse, I.; Kotzaeridou, U.; Gauck, D.; Grebe, T. A.; Elmslie, F.; Stals, K.; Gupta, R.; Bertini, E.; Thiffault, I.; Taft, R. J.; Schiffmann, R.; Brandl, U.; Haack, T. B.; Salomons, G. S.; Simons, C.; Bernard, G.; van der Knaap, M. S.; Vanderver, A.; Husain, R. A.
Helman, G, Mendes, M I , Nicita, F, Darbelli, L, Sherbini, O, Moore, T, Derksen, A, Amy Pizzino, P, Carrozzo, R, Torraco, A, Catteruccia, M, Aiello, C, Goffrini, P, Figuccia, S, Smith, D E C, Hadzsiev, K, Hahn, A, Biskup, S, Brösse, I , Kotzaeridou, U, Gauck, D, Grebe, T A, Elmslie, F, Stals, K, Gupta, R, Bertini, E, Thiffault , I , Taft, R J, Schiffmann, R, Brandl, U, Haack, T B, Salomons, G S, Simons, C, Bernard, G, van der Knaap, M S, Vanderver, A & Husain, R A 2021, 'Expanded phenotype of AARS1-related white matter disease', Genetics in Medicine, vol. 23, no. 12, pp. 2352-2359. https://doi.org/10.1038/s41436-021-01286-8
Academic Journal
Kattge, Jens; Boenisch, Gerhard; Diaz, Sandra; Lavorel, Sandra; Prentice, Iain Colin; Leadley, Paul; Tautenhahn, Susanne; Werner, Gijsbert D. A.; Aakala, Tuomas; Abedi, Mehdi; Acosta, Alicia T. R.; Adamidis, George C.; Adamson, Kairi; Aiba, Masahiro; Albert, Cecile H.; Alcantara, Julio M.; Alcazar, Carolina C.; Aleixo, Izabela; Ali, Hamada; Amiaud, Bernard; Ammer, Christian; Amoroso, Mariano M.; Anand, Madhur; Anderson, Carolyn; Anten, Niels; Antos, Joseph; Apgaua, Deborah Mattos Guimaraes; Ashman, Tia-Lynn; Asmara, Degi Harja; Asner, Gregory P.; Aspinwall, Michael; Atkin, Owen; Aubin, Isabelle; Baastrup-Spohr, Lars; Bahalkeh, Khadijeh; Bahn, Michael; Baker, Timothy; Baker, William J.; Bakker, Jan P.; Baldocchi, Dennis; Baltzer, Jennifer; Banerjee, Arindam; Baranger, Anne; Barlow, Jos; Barneche, Diego R.; Baruch, Zdravko; Bastianelli, Denis; Battles, John; Bauerle, William; Bauters, Marijn; Bazzato, Erika; Beckmann, Michael; Beeckman, Hans; Beierkuhnlein, Carl; Bekker, Renee; Belfry, Gavin; Belluau, Michael; Beloiu, Mirela; Benavides, Raquel; Benomar, Lahcen; Berdugo-Lattke, Mary Lee; Berenguer, Erika; Bergamin, Rodrigo; Bergmann, Joana; Carlucci, Marcos Bergmann; Berner, Logan; Bernhardt-Roemermann, Markus; Bigler, Christof; Bjorkman, Anne D.; Blackman, Chris; Blanco, Carolina; Blonder, Benjamin; Blumenthal, Dana; Bocanegra-Gonzalez, Kelly T.; Boeckx, Pascal; Bohlman, Stephanie; Boehning-Gaese, Katrin; Boisvert-Marsh, Laura; Bond, William; Bond-Lamberty, Ben; Boom, Arnoud; Boonman, Coline C. F.; Bordin, Kauane; Boughton, Elizabeth H.; Boukili, Vanessa; Bowman, David M. J. S.; Bravo, Sandra; Brendel, Marco Richard; Broadley, Martin R.; Brown, Kerry A.; Bruelheide, Helge; Brumnich, Federico; Bruun, Hans Henrik; Bruy, David; Buchanan, Serra W.; Bucher, Solveig Franziska; Buchmann, Nina; Buitenwerf, Robert; Bunker, Daniel E.; Buerger, Jana; Burrascano, Sabina; Burslem, David F. R. P.; Butterfield, Bradley J.; Byun, Chaeho; Marques, Marcia; Scalon, Marina C.; Caccianiga, Marco; Cadotte, Marc; Cailleret, Maxime; Camac, James; Julio Camarero, Jesus; Campany, Courtney; Campetella, Giandiego; Campos, Juan Antonio; Cano-Arboleda, Laura; Canullo, Roberto; Carbognani, Michele; Carvalho, Fabio; Casanoves, Fernando; Castagneyrol, Bastien; Catford, Jane A.; Cavender-Bares, Jeannine; Cerabolini, Bruno E. L.; Cervellini, Marco; Chacon-Madrigal, Eduardo; Chapin, Kenneth; Chapin, F. Stuart; Chelli, Stefano; Chen, Si-Chong; Chen, Anping; Cherubini, Paolo; Chianucci, Francesco; Choat, Brendan; Chung, Kyong-Sook; Chytry, Milan; Ciccarelli, Daniela; Coll, Lluis; Collins, Courtney G.; Conti, Luisa; Coomes, David; Cornelissen, Johannes H. C.; Cornwell, William K.; Corona, Piermaria; Coyea, Marie; Craine, Joseph; Craven, Dylan; Cromsigt, Joris P. G. M.; Csecserits, Aniko; Cufar, Katarina; Cuntz, Matthias; da Silva, Ana Carolina; Dahlin, Kyla M.; Dainese, Matteo; Dalke, Igor; Dalle Fratte, Michele; Dang-Le, Anh Tuan; Danihelka, Jiri; Dannoura, Masako; Dawson, Samantha; de Beer, Arend Jacobus; De Frutos, Angel; De Long, Jonathan R.; Dechant, Benjamin; Delagrange, Sylvain; Delpierre, Nicolas; Derroire, Geraldine; Dias, Arildo S.; Diaz-Toribio, Milton Hugo; Dimitrakopoulos, Panayiotis G.; Dobrowolski, Mark; Doktor, Daniel; Drevojan, Pavel; Dong, Ning; Dransfield, John; Dressler, Stefan; Duarte, Leandro; Ducouret, Emilie; Dullinger, Stefan; Durka, Walter; Duursma, Remko; Dymova, Olga; E-Vojtko, Anna; Eckstein, Rolf Lutz, 1965; Ejtehadi, Hamid; Elser, James; Emilio, Thaise; Engemann, Kristine; Erfanian, Mohammad Bagher; Erfmeier, Alexandra; Esquivel-Muelbert, Adriane; Esser, Gerd; Estiarte, Marc; Domingues, Tomas F.; Fagan, William F.; Fagundez, Jaime; Falster, Daniel S.; Fan, Ying; Fang, Jingyun; Farris, Emmanuele; Fazlioglu, Fatih; Feng, Yanhao; Fernandez-Mendez, Fernando; Ferrara, Carlotta; Ferreira, Joice; Fidelis, Alessandra; Finegan, Bryan; Firn, Jennifer; Flowers, Timothy J.; Flynn, Dan F. B.; Fontana, Veronika; Forey, Estelle; Forgiarini, Cristiane; Francois, Louis; Frangipani, Marcelo; Frank, Dorothea; Frenette-Dussault, Cedric; Freschet, Gregoire T.; Fry, Ellen L.; Fyllas, Nikolaos M.; Mazzochini, Guilherme G.; Gachet, Sophie; Gallagher, Rachael; Ganade, Gislene; Ganga, Francesca; Garcia-Palacios, Pablo; Gargaglione, Veronica; Garnier, Eric; Luis Garrido, Jose; Luis de Gasper, Andre; Gea-Izquierdo, Guillermo; Gibson, David; Gillison, Andrew N.; Giroldo, Aelton; Glasenhardt, Mary-Claire; Gleason, Sean; Gliesch, Mariana; Goldberg, Emma; Goeldel, Bastian; Gonzalez-Akre, Erika; Gonzalez-Andujar, Jose L.; Gonzalez-Melo, Andres; Gonzalez-Robles, Ana; Graae, Bente Jessen; Granda, Elena; Graves, Sarah; Green, Walton A.; Gregor, Thomas; Gross, Nicolas; Guerin, Greg R.; Guenther, Angela; Gutierrez, Alvaro G.; Haddock, Lillie; Haines, Anna; Hall, Jefferson; Hambuckers, Alain; Han, Wenxuan; Harrison, Sandy P.; Hattingh, Wesley; Hawes, Joseph E.; He, Tianhua; He, Pengcheng; Heberling, Jacob Mason; Helm, Aveliina; Hempel, Stefan; Hentschel, Joern; Herault, Bruno; Heres, Ana-Maria; Herz, Katharina; Heuertz, Myriam; Hickler, Thomas; Hietz, Peter; Higuchi, Pedro; Hipp, Andrew L.; Hirons, Andrew; Hock, Maria; Hogan, James Aaron; Holl, Karen; Honnay, Olivier; Hornstein, Daniel; Hou, Enqing; Hough-Snee, Nate; Hovstad, Knut Anders; Ichie, Tomoaki; Igic, Boris; Illa, Estela; Isaac, Marney; Ishihara, Masae; Ivanov, Leonid; Ivanova, Larissa; Iversen, Colleen M.; Izquierdo, Jordi; Jackson, Robert B.; Jackson, Benjamin; Jactel, Herve; Jagodzinski, Andrzej M.; Jandt, Ute; Jansen, Steven; Jenkins, Thomas; Jentsch, Anke; Jespersen, Jens Rasmus Plantener; Jiang, Guo-Feng; Johansen, Jesper Liengaard; Johnson, David; Jokela, Eric J.; Joly, Carlos Alfredo; Jordan, Gregory J.; Joseph, Grant Stuart; Junaedi, Decky; Junker, Robert R.; Justes, Eric; Kabzems, Richard; Kane, Jeffrey; Kaplan, Zdenek; Kattenborn, Teja; Kavelenova, Lyudmila; Kearsley, Elizabeth; Kempel, Anne; Kenzo, Tanaka; Kerkhoff, Andrew; Khalil, Mohammed I.; Kinlock, Nicole L.; Kissling, Wilm Daniel; Kitajima, Kaoru; Kitzberger, Thomas; Kjoller, Rasmus; Klein, Tamir; Kleyer, Michael; Klimesova, Jitka; Klipel, Joice; Kloeppel, Brian; Klotz, Stefan; Knops, Johannes M. H.; Kohyama, Takashi; Koike, Fumito; Kollmann, Johannes; Komac, Benjamin; Komatsu, Kimberly; Koenig, Christian; Kraft, Nathan J. B.; Kramer, Koen; Kreft, Holger; Kuehn, Ingolf; Kumarathunge, Dushan; Kuppler, Jonas; Kurokawa, Hiroko; Kurosawa, Yoko; Kuyah, Shem; Laclau, Jean-Paul; Lafleur, Benoit; Lallai, Erik; Lamb, Eric; Lamprecht, Andrea; Larkin, Daniel J.; Laughlin, Daniel; Le Bagousse-Pinguet, Yoann; le Maire, Guerric; le Roux, Peter C.; le Roux, Elizabeth; Lee, Tali; Lens, Frederic; Lewis, Simon L.; Lhotsky, Barbara; Li, Yuanzhi; Li, Xine; Lichstein, Jeremy W.; Liebergesell, Mario; Lim, Jun Ying; Lin, Yan-Shih; Linares, Juan Carlos; Liu, Chunjiang; Liu, Daijun; Liu, Udayangani; Livingstone, Stuart; Llusia, Joan; Lohbeck, Madelon; Lopez-Garcia, Alvaro; Lopez-Gonzalez, Gabriela; Lososova, Zdenka; Louault, Frederique; Lukacs, Balazs A.; Lukes, Petr; Luo, Yunjian; Lussu, Michele; Ma, Siyan; Pereira, Camilla Maciel Rabelo; Mack, Michelle; Maire, Vincent; Makela, Annikki; Makinen, Harri; Mendes Malhado, Ana Claudia; Mallik, Azim; Manning, Peter; Manzoni, Stefano; Marchetti, Zuleica; Marchino, Luca; Marcilio-Silva, Vinicius; Marcon, Eric; Marignani, Michela; Markesteijn, Lars; Martin, Adam; Martinez-Garza, Cristina; Martinez-Vilalta, Jordi; Maskova, Tereza; Mason, Kelly; Mason, Norman; Massad, Tara Joy; Masse, Jacynthe; Mayrose, Itay; McCarthy, James; McCormack, M. Luke; McCulloh, Katherine; McFadden, Ian R.; McGill, Brian J.; McPartland, Mara Y.; Medeiros, Juliana S.; Medlyn, Belinda; Meerts, Pierre; Mehrabi, Zia; Meir, Patrick; Melo, Felipe P. L.; Mencuccini, Maurizio; Meredieu, Celine; Messier, Julie; Meszaros, Ilona; Metsaranta, Juha; Michaletz, Sean T.; Michelaki, Chrysanthi; Migalina, Svetlana; Milla, Ruben; Miller, Jesse E. D.; Minden, Vanessa; Ming, Ray; Mokany, Karel; Moles, Angela T.; Molnar, Attila, V; Molofsky, Jane; Molz, Martin; Montgomery, Rebecca A.; Monty, Arnaud; Moravcova, Lenka; Moreno-Martinez, Alvaro; Moretti, Marco; Mori, Akira S.; Mori, Shigeta; Morris, Dave; Morrison, Jane; Mucina, Ladislav; Mueller, Sandra; Muir, Christopher D.; Mueller, Sandra Cristina; Munoz, Francois; Myers-Smith, Isla H.; Myster, Randall W.; Nagano, Masahiro; Naidu, Shawna; Narayanan, Ayyappan; Natesan, Balachandran; Negoita, Luka; Nelson, Andrew S.; Neuschulz, Eike Lena; Ni, Jian; Niedrist, Georg; Nieto, Jhon; Niinemets, Ulo; Nolan, Rachael; Nottebrock, Henning; Nouvellon, Yann; Novakovskiy, Alexander; Nystuen, Kristin Odden; O'Grady, Anthony; O'Hara, Kevin; O'Reilly-Nugent, Andrew; Oakley, Simon; Oberhuber, Walter; Ohtsuka, Toshiyuki; Oliveira, Ricardo; Ollerer, Kinga; Olson, Mark E.; Onipchenko, Vladimir; Onoda, Yusuke; Onstein, Renske E.; Ordonez, Jenny C.; Osada, Noriyuki; Ostonen, Ivika; Ottaviani, Gianluigi; Otto, Sarah; Overbeck, Gerhard E.; Ozinga, Wim A.; Pahl, Anna T.; Paine, C. E. Timothy; Pakeman, Robin J.; Papageorgiou, Aristotelis C.; Parfionova, Evgeniya; Paertel, Meelis; Patacca, Marco; Paula, Susana; Paule, Juraj; Pauli, Harald; Pausas, Juli G.; Peco, Begona; Penuelas, Josep; Perea, Antonio; Luis Peri, Pablo; Petisco-Souza, Ana Carolina; Petraglia, Alessandro; Petritan, Any Mary; Phillips, Oliver L.; Pierce, Simon; Pillar, Valerio D.; Pisek, Jan; Pomogaybin, Alexandr; Poorter, Hendrik; Portsmuth, Angelika; Poschlod, Peter; Potvin, Catherine; Pounds, Devon; Powell, A. Shafer; Power, Sally A.; Prinzing, Andreas; Puglielli, Giacomo; Pysek, Petr; Raevel, Valerie; Rammig, Anja; Ransijn, Johannes; Ray, Courtenay A.; Reich, Peter B.; Reichstein, Markus; Reid, Douglas E. B.; Rejou-Mechain, Maxime; Resco de Dios, Victor; Ribeiro, Sabina; Richardson, Sarah; Riibak, Kersti; Rillig, Matthias C.; Riviera, Fiamma; Robert, Elisabeth M. R.; Roberts, Scott; Robroek, Bjorn; Roddy, Adam; Rodrigues, Arthur Vinicius; Rogers, Alistair; Rollinson, Emily; Rolo, Victor; Roemermann, Christine; Ronzhina, Dina; Roscher, Christiane; Rosell, Julieta A.; Rosenfield, Milena Fermina; Rossi, Christian; Roy, David B.; Royer-Tardif, Samuel; Rueger, Nadja; Ruiz-Peinado, Ricardo; Rumpf, Sabine B.; Rusch, Graciela M.; Ryo, Masahiro; Sack, Lawren; Saldana, Angela; Salgado-Negret, Beatriz; Salguero-Gomez, Roberto; Santa-Regina, Ignacio; Carolina Santacruz-Garcia, Ana; Santos, Joaquim; Sardans, Jordi; Schamp, Brandon; Scherer-Lorenzen, Michael; Schleuning, Matthias; Schmid, Bernhard; Schmidt, Marco; Schmitt, Sylvain; Schneider, Julio V.; Schowanek, Simon D.; Schrader, Julian; Schrodt, Franziska; Schuldt, Bernhard; Schurr, Frank; Selaya Garvizu, Galia; Semchenko, Marina; Seymour, Colleen; Sfair, Julia C.; Sharpe, Joanne M.; Sheppard, Christine S.; Sheremetiev, Serge; Shiodera, Satomi; Shipley, Bill; Shovon, Tanvir Ahmed; Siebenkaes, Alrun; Carlos, Sierra; Silva, Vasco; Silva, Mateus; Sitzia, Tommaso; Sjoman, Henrik; Slot, Martijn; Smith, Nicholas G.; Sodhi, Darwin; Soltis, Pamela; Soltis, Douglas; Somers, Ben; Sonnier, Gregory; Sorensen, Mia Vedel; Sosinski, Enio Egon, Jr.; Soudzilovskaia, Nadejda A.; Souza, Alexandre F.; Spasojevic, Marko; Sperandii, Marta Gaia; Stan, Amanda B.; Stegen, James; Steinbauer, Klaus; Stephan, Jorg G.; Sterck, Frank; Stojanovic, Dejan B.; Strydom, Tanya; Laura Suarez, Maria; Svenning, Jens-Christian; Svitkova, Ivana; Svitok, Marek; Svoboda, Miroslav; Swaine, Emily; Swenson, Nathan; Tabarelli, Marcelo; Takagi, Kentaro; Tappeiner, Ulrike; Tarifa, Ruben; Tauugourdeau, Simon; Tavsanoglu, Cagatay; te Beest, Mariska; Tedersoo, Leho; Thiffault, Nelson; Thom, Dominik; Thomas, Evert; Thompson, Ken; Thornton, Peter E.; Thuiller, Wilfried; Tichy, Lubomir; Tissue, David; Tjoelker, Mark G.; Tng, David Yue Phin; Tobias, Joseph; Torok, Peter; Tarin, Tonantzin; Torres-Ruiz, Jose M.; Tothmeresz, Bela; Treurnicht, Martina; Trivellone, Valeria; Trolliet, Franck; Trotsiuk, Volodymyr; Tsakalos, James L.; Tsiripidis, Ioannis; Tysklind, Niklas; Umehara, Toru; Usoltsev, Vladimir; Vadeboncoeur, Matthew; Vaezi, Jamil; Valladares, Fernando; Vamosi, Jana; van Bodegom, Peter M.; van Breugel, Michiel; Van Cleemput, Elisa; van de Weg, Martine; van der Merwe, Stephni; van der Plas, Fons; van der Sande, Masha T.; van Kleunen, Mark; Van Meerbeek, Koenraad; Vanderwel, Mark; Vanselow, Kim Andre; Varhammar, Angelica; Varone, Laura; Vasquez Valderrama, Maribel Yesenia; Vassilev, Kiril; Vellend, Mark; Veneklaas, Erik J.; Verbeeck, Hans; Verheyen, Kris; Vibrans, Alexander; Vieira, Ima; Villacis, Jaime; Violle, Cyrille; Vivek, Pandi; Wagner, Katrin; Waldram, Matthew; Waldron, Anthony; Walker, Anthony P.; Waller, Martyn; Walther, Gabriel; Wang, Han; Wang, Feng; Wang, Weiqi; Watkins, Harry; Watkins, James; Weber, Ulrich; Weedon, James T.; Wei, Liping; Weigelt, Patrick; Weiher, Evan; Wells, Aidan W.; Wellstein, Camilla; Wenk, Elizabeth; Westoby, Mark; Westwood, Alana; White, Philip John; Whitten, Mark; Williams, Mathew; Winkler, Daniel E.; Winter, Klaus; Womack, Chevonne; Wright, Ian J.; Wright, S. Joseph; Wright, Justin; Pinho, Bruno X.; Ximenes, Fabiano; Yamada, Toshihiro; Yamaji, Keiko; Yanai, Ruth; Yankov, Nikolay; Yguel, Benjamin; Zanini, Katia Janaina; Zanne, Amy E.; Zeleny, David; Zhao, Yun-Peng; Zheng, Jingming; Zheng, Ji; Zieminska, Kasia; Zirbel, Chad R.; Zizka, Georg; Zo-Bi, Irie Casimir; Zotz, Gerhard; Wirth, Christian
Global Change Biology. 26(1):119-188
Academic Journal
K. Chapman; N. Thiffault; D. Gouge; H.D. Deighton; I. Allen; F.W. Bell; C.B. Edge; R.L. Fleming; D. Flood; M.K. Hoepting; G.J. Kayahara; C. McDonell; D.M. Morris; J. Tallman; L.A. Venier
The Forestry Chronicle, Vol 100, Iss 1, Pp 128-138 (2024)
Academic Journal
Chen, Xiao; Harting, John; Farrow, E.; Thiffault, I.; Kasperaviciute, Dalia; Hoischen, A.; Gilissen, C.; Pastinen, T.; Eberle, Michael A.
Am J Hum Genet
American Journal of Human Genetics, 110, 2, pp. 240-250
American Journal of Human Genetics, 110, 2, pp. 240-250
Academic Journal
Fasham, J.; Lin, S.; Ghosh, P.; Radio, F. C.; Farrow, E. G.; Thiffault, I.; Kussman, J.; Zhou, D.; Hemming, R.; Zahka, K.; Chioza, B. A.; Rawlins, L. E.; Wenger, O. K.; Gunning, A. C.; Pizzi, S.; Onesimo, R.; Zampino, G.; Barker, E.; Osawa, N.; Rodriguez, M. C.; Neuhann, T. M.; Zackai, E. H.; Keena, B.; Capasso, J.; Levin, A. V.; Bhoj, E.; Li, D.; Hakonarson, H.; Wentzensen, I. M.; Jackson, A.; Chandler, K. E.; Coban-Akdemir, Z. H.; Posey, J. E.; Banka, S.; Lupski, J. R.; Sheppard, S. E.; Tartaglia, M.; Triggs-Raine, B.; Crosby, A. H.; Baple, E. L.
Genet Med
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G,Thiffault , I , Kussman, J, Zhou, D, Hemming, R, Zahka, K, Chioza, B A, Rawlins, L E, Wenger, O K, Gunning, A C, Pizzi, S, Onesimo, R, Zampino, G, Barker, E, Osawa, N, Rodriguez, M C, Neuhann, T M, Zackai, E H, Keena, B, Capasso, J, Levin, A V, Bhoj, E, Li, D, Hakonarson, H, Wentzensen, I M, Jackson, A, Chandler, K E, Coban-Akdemir, Z H, Posey, J E, Banka, S, Lupski, J R, Sheppard, S E, Tartaglia, M, Triggs-Raine, B, Crosby, A H & Baple, E L 2022, 'Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 24, no. 3, pp. 631-644. https://doi.org/10.1016/j.gim.2021.10.014
Genetics in Medicine
Fasham, J, Lin, S, Ghosh, P, Radio, F C, Farrow, E G,
Genetics in Medicine
Academic Journal
den Hoed, J.; de Boer, E.; Voisin, N.; Dingemans, A.J.M.; Guex, N.; van de Wiel, L.J.M.; Nellaker, C.; Amudhavalli, S.M.; Banka, S.; Bena, F.S.; Ben-Zeev, B.; Bonagura, V.R.; Bruel, A.L.; Brunet, T.; Brunner, H.G.; Chew, H.B.; Chrast, J.; Cimbalistienė, L.; Coon, H.; Délot, E.C.; Démurger, F.; Denommé-Pichon, A.S.; Depienne, C.; Donnai, D.; Dyment, D.A.; Elpeleg, O.; Faivre, L.; Gilissen, C.F.; Granger, L.; Haber, B.; Hachiya, Y.; Abedi, Y.H.; Hanebeck, J.; Hehir-Kwa, J.Y.; Horist, B.; Itai, T.; Jackson, A.; Jewell, R.; Jones, K.L.; Joss, S.; Kashii, H.; Kato, M.; Kattentidt-Mouravieva, A.A.; Kok, F.; Kotzaeridou, U.; Krishnamurthy, V.; Kučinskas, V.; Kuechler, A.; Lavillaureix, A.; Liu, P; Manwaring, L.; Matsumoto, N.; Mazel, B.; McWalter, K.; Meiner, V.; Mikati, M.A.; Miyatake, S.; Mizuguchi, T.; Moey, L.H.; Mohammed, S; Mor-Shaked, H.; Mountford, H.; Newbury-Ecob, R.; Odent, S.; Orec, L.; Osmond, M.; Palculict, T.B.; Parker, M.; Petersen, A.K.; Pfundt, R.P.; Preikšaitienė, E.; Radtke, K.; Ranza, E.; Rosenfeld, J.A.; Santiago-Sim, T.; Schwager, C.; Sinnema, M.; Snijders Blok, L.; Spillmann, R.C.; Stegmann, A.P.A.; Thiffault, I.; Tran, L.; Vaknin-Dembinsky, A.; Vedovato-Dos-Santos, J.H.; Schrier Vergano, S.A.; Vilain, E.; Vitobello, A.; Wagner, M.; Waheeb, A.; Willing, M.; Zuccarelli, B.; Kini, U.; Newbury, D.F.; Kleefstra, T.; Reymond, A.; Fisher, S.E.; Vissers, L.E.L.M.
American Journal of Human Genetics, 108, 2, pp. 346-356
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A,Thiffault , I , Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M, Zuccarelli, B, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2021, ' Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction ', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356 . https://doi.org/10.1016/j.ajhg.2021.01.007
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A,Thiffault , I , Tran, L, Vaknin-Dembinsky, A, Vedovato-dos-Santos, J H, Schrier Vergano, S A, Vilain, E, Vitobello, A, Wagner, M, Waheeb, A, Willing, M C, Zuccarelli, B D, Kini, U, Newbury, D F, Kleefstra, T, Reymond, A, Fisher, S E & Vissers, L E L M 2020 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction' bioRxiv, pp. 1-24. https://doi.org/10.1101/2020.10.23.352278
American Journal of Human Genetics, vol 108, iss 2
The American Journal of Human Genetics
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A J M, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S M, Banka, S, Bena, F S, Ben-Zeev, B, Bonagura, V R, Wellcome Trust Sanger Institute, Bruel, A L, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, Délot, E C, Démurger, F, Denommé-Pichon, A S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Snijders Blok, L, Spillmann, R C, Stegmann, A P A,
Am. J. Hum. Genet. 108, 346-356 (2021)
DDD Study 2021, 'Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction', American Journal of Human Genetics, vol. 108, no. 2, pp. 346-356. https://doi.org/10.1016/j.ajhg.2021.01.007
den Hoed, J, de Boer, E, Voisin, N, Dingemans, A, Guex, N, Wiel, L, Nellaker, C, Amudhavalli, S, Banka, S, Bena, F, Ben-Zeev, B, Bonagura, V, Bruel, A, Brunet, T, Brunner, H G, Chew, H B, Chrast, J, Cimbalistienė, L, Coon, H, study, T DDD, Délot, E C, Démurger, F, Denommé-Pichon, A-S, Depienne, C, Donnai, D, Dyment, D A, Elpeleg, O, Faivre, L, Gilissen, C, Granger, L, Haber, B, Hachiya, Y, Abedi, Y H, Hanebeck, J, Hehir-Kwa, J Y, Horist, B, Itai, T, Jackson, A, Jewell, R, Jones, K L, Joss, S, Kashii, H, Kato, M, Kattentidt-Mouravieva, A A, Kok, F, Kotzaeridou, U, Krishnamurthy, V, Kučinskas, V, Kuechler, A, Lavillaureix, A, Liu, P, Manwaring, L, Matsumoto, N, Mazel, B, McWalter, K, Meiner, V, Mikati, M A, Miyatake, S, Mizuguchi, T, Moey, L H, Mohammed, S, Mor-Shaked, H, Mountford, H, Newbury-Ecob, R, Odent, S, Orec, L, Osmond, M, Palculict, T B, Parker, M, Petersen, A K, Pfundt, R, Preikšaitienė, E, Radtke, K, Ranza, E, Rosenfeld, J A, Santiago-Sim, T, Schwager, C, Sinnema, M, Blok, L S, Spillmann, R C, Stegmann, A P A,
American Journal of Human Genetics, vol 108, iss 2
Academic Journal
Chen, X.; Baker, D.; Dolzhenko, E.; Eberle, M.A.; Devaney, J.M.; Noya, J.; Berlyoung, A.S.; Brandon, R.; Hruska, K.S.; Lochovsky, L.; Kruszka, P.; Newman, S.; Farrow, E.; Thiffault, I.; Pastinen, T.; Kasperaviciute, D.; Gilissen, C.; Vissers, L.; Hoischen, A.; Berger, S.; Boukas, L.; Delaney, M.; Fraser, J.; Ko, A.; Cohen, A.; Vilain, E.; Délot, E.; Li, W.; Fusaro, V.; Almalvez, M.; LoTempio, J.; de Dios, I.; King, C.H.; Xiao, C.; Cui, Y.; Auriga, L.; Pitsava, G.; Belhadj, S.; Karam, R.; Bluske, K.; Harting, J.; Hsiao, E.Y.-H.; Losic, B.
In: Nature Communications . (Nature Communications, December 2025, 16(1))
Academic Journal
Madelyn A. Gillentine; Tianyun Wang; Kendra Hoekzema; Jill Rosenfeld; Pengfei Liu; Hui Guo; Chang N. Kim; Bert B. A. De Vries; Lisenka E. L. M. Vissers; Magnus Nordenskjold; Malin Kvarnung; Anna Lindstrand; Ann Nordgren; Jozef Gecz; Maria Iascone; Anna Cereda; Agnese Scatigno; Silvia Maitz; Ginevra Zanni; Enrico Bertini; Christiane Zweier; Sarah Schuhmann; Antje Wiesener; Micah Pepper; Heena Panjwani; Erin Torti; Farida Abid; Irina Anselm; Siddharth Srivastava; Paldeep Atwal; Carlos A. Bacino; Gifty Bhat; Katherine Cobian; Lynne M. Bird; Jennifer Friedman; Meredith S. Wright; Bert Callewaert; Florence Petit; Sophie Mathieu; Alexandra Afenjar; Celenie K. Christensen; Kerry M. White; Orly Elpeleg; Itai Berger; Edward J. Espineli; Christina Fagerberg; Charlotte Brasch-Andersen; Lars Kjærsgaard Hansen; Timothy Feyma; Susan Hughes; Isabelle Thiffault; Bonnie Sullivan; Shuang Yan; Kory Keller; Boris Keren; Cyril Mignot; Frank Kooy; Marije Meuwissen; Alice Basinger; Mary Kukolich; Meredith Philips; Lucia Ortega; Margaret Drummond-Borg; Mathilde Lauridsen; Kristina Sorensen; Anna Lehman; CAUSES Study; Elena Lopez-Rangel; Paul Levy; Davor Lessel; Timothy Lotze; Suneeta Madan-Khetarpal; Jessica Sebastian; Jodie Vento; Divya Vats; L. Manace Benman; Shane Mckee; Ghayda M. Mirzaa; Candace Muss; John Pappas; Hilde Peeters; Corrado Romano; Maurizio Elia; Ornella Galesi; Marleen E. H. Simon; Koen L. I. van Gassen; Kara Simpson; Robert Stratton; Sabeen Syed; Julien Thevenon; Irene Valenzuela Palafoll; Antonio Vitobello; Marie Bournez; Laurence Faivre; Kun Xia; SPARK Consortium; Rachel K. Earl; Tomasz Nowakowski; Raphael A. Bernier; Evan E. Eichler
Genome Medicine, Vol 13, Iss 1, Pp 1-26 (2021)
Academic Journal
Diets, I.J.; van der Donk, R.; Baltrunaite, K.; Waanders, E.; Reijnders, M.R.F.; Dingemans, A.J.; Pfundt, R.P.; Vulto-van Silfhout, A.T.; van de Wiel, L.J.M.; Gilissen, C.F.; Thevenon, J.; Perrin, L.; Afenjar, A.; Nava, C.; Keren, B.; Bartz, S.; Peri, B.; Beunders, G.; Verbeek, N.; van Gassen, K.; Thiffault, I.; Cadieux-Dion, M.; Huerta-Saenz, L.; Wagner, M.; Konstantopoulou, V.; Vodopiutz, J.; Griese, M.; Boel, A.; Callewaert, B.; Brunner, H.G.; Kleefstra, T.; Hoogerbrugge, N.; de Vries, B.B.; Hwa, V.; Dauber, A.; Hehir-Kwa, J.Y.; Kuiper, R.P; Jongmans, M.C.J.
Diets, I J, van der Donk, R, Baltrunaite, K, Waanders, E, Reijnders, M R F, Dingemans, A J M, Pfundt, R, Vulto-van Silfhout, A T, Wiel, L, Gilissen, C, Thevenon, J, Perrin, L, Afenjar, A, Nava, C, Keren, B, Bartz, S, Peri, B, Beunders, G, Verbeek, N, van Gassen, K, Thiffault , I , Cadieux-Dion, M, Huerta-Saenz, L, Wagner, M, Konstantopoulou, V, Vodopiutz, J, Griese, M, Boel, A, Callewaert, B, Brunner, H G, Kleefstra, T, Hoogerbrugge, N, de Vries, B B A, Hwa, V, Dauber, A, Hehir-Kwa, J Y, Kuiper, R P & Jongmans, M C J 2019, 'De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism', American journal of human genetics, vol. 104, no. 4, pp. 758-766. https://doi.org/10.1016/j.ajhg.2019.02.023
American Journal of Human Genetics, 104, 4, pp. 758-766
Am. J. Hum. Genet. 104, 758-766 (2019)
American Journal of Human Genetics, 104, 4, pp. 758-766
Am. J. Hum. Genet. 104, 758-766 (2019)
Academic Journal
Skoric-Milosavljevic, D.; Lahrouchi, N.; Bosada, F.M.; Dombrowsky, G.; Williams, S.G.; Lesurf, R.; Tjong, F.V.Y.; Walsh, R.; Bouchikhi, I. el; Breckpot, J.; Audain, E.; Ilgun, A.; Beekman, L.; Ratbi, I.; Strong, A.; Muenke, M.; Heide, S.; Muir, A.M.; Hababa, M.; Cross, L.; Zhou, D.H.; Pastinen, T.; Zackai, E.; Atmani, S.; Ouldim, K.; Adadi, N.; Steindl, K.; Rauch, A.; Brook, D.; Wilsdon, A.; Kuipers, I.; Blom, N.A.; Mulder, B.J.; Mefford, H.C.; Keren, B.; Joset, P.; Kruszka, P.; Thiffault, I.; Sheppard, S.E.; Roberts, A.; Lodder, E.M.; Keavney, B.D.; Clur, S.A.B.; Mital, S.; Hitz, M.P.; Christoffels, V.M.; Postma, A.V.; Bezzina, C.R.; German Competence Network Conge
Academic Journal
Falk M. J.; Shen L.; Gonzalez M.; Leipzig J.; Lott M. T.; Stassen A. P. M.; Diroma M. A.; Navarro Gomez D.; Yeske P.; Bai R.; Boles R. G.; Brilhante V.; Ralph D.; DaRe J. T.; Shelton R.; Terry S. F.; Zhang Z.; Copeland W. C.; van Oven M.; Prokisch H.; Wallace D. C.; Attimonelli M.; Krotoski D.; Zuchner S.; Gai X.; Bale S.; Bedoyan J.; Behar D.; Bonnen P.; Brooks L.; CALABRESE, CLAUDIA; Calvo S.; Chinnery P.; Christodoulou J.; Church D. t; Clima R.; Cohen B. H.; Cotton R. G.; de Coo I. F. M.; Derbenevoa O.; den Dunnen J. T.; Dimmock D.; Enns G.; GASPARRE, GIUSEPPE; Goldstein A.; Gonzalez I.; Gwinn K.; Hahn S.; Haas R. H.; Hakonarson H.; Hirano M.; Kerr D.; Li D.; Lvova M.; Macrae F.; Maglott D.; McCormick E.; Mitchell G.; Mootha V. K.; Okazaki Y.; Pujol A.; Parisi M.; Perin J. C.; Pierce E. A.; Procaccio V.; Rahman S.; Reddi H.; Rehm H.; Riggs E.; Rodenburg R.; Rubinstein Y.; Saneto R.; Santorsola M.; Scharfe C.; Sheldon C.; Shoubridge E. A.; Simone D.; Smeets B.; Smeitink J. A.; Stanley C.; Suomalainen A.; Tarnopolsky M.; Thiffault I.; Thorburn D. R.; Hove J. V.; Wolfe L.; Wong L. J.
Molecular Genetics and Metabolism, 114, 3, pp. 388-96
Mol. Genet. Metab. 114, 388-396 (2015)
Mol. Genet. Metab. 114, 388-396 (2015)
MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement
Academic Journal
Donkervoort, S.; Sabouny, R.; Yun, P.; Gauquelin, L.; Chao, K. R.; Hu, Y.; Al Khatib, I.; Töpf, A.; Mohassel, P.; Cummings, B. B.; Kaur, R.; Saade, D.; Moore, S. A.; Waddell, L. B.; Farrar, M. A.; Goodrich, J. K.; Uapinyoying, P.; Chan, S.H. S.; Javed, A.; Leach, M. E.; Karachunski, P.; Dalton, J.; Medne, L.; Harper, A.; Thompson, C.; Thiffault, I.; Specht, S.; Lamont, R. E.; Saunders, C.; Racher, H.; Bernier, F. P.; Mowat, D.; Witting, N.; Vissing, J.; Hanson, R.; Coffman, K. A.; Hainlen, M.; Parboosingh, J. S.; Carnevale, A.; Yoon, G.; Schnur, R. E.; Boycott, K. M.; Mah, J. K.; Straub, V.; Foley, A. Reghan; Innes, A. M.; Bönnemann, C. G.; Shutt, T. E.
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 138(6):1013-1031
Academic Journal
Flex E; Niceta M; Cecchetti S; Thiffault I; Au MG; Capuano A; Piermarini E; Ivanova AA; Francis JW; Chillemi G; Chandramouli B; Carpentieri G; Haaxma CA; Ciolfi A; Pizzi S; Douglas GV; Levine K; Sferra A; Dentici ML; Pfundt RR; Le Pichon JB; Farrow E; Baas F; Piemonte F; Dallapiccola B; Graham JM Jr; Saunders CJ; Bertini E; Kahn RA; Koolen DA; Tartaglia M
American Journal of Human Genetics, 99, 4, pp. 962-973
Conference
Verloes, A.; Haye, D.; Toutain, A.; Bonneau, D.; Nielsen, I. Kibaek; Lund, I. Bay; Bogaard, P.; Leenskjold, S.; Karaer, K.; Wild, K. T.; Grand, K. L.; Astiazaran, M. C.; Gonzalez-Nieto, L. A.; Carvalho, A.; Lehalle, D.; Amudhavalli, S. M.; Repnikova, E.; Saunders, C.; Thiffault, I.; Saadi, I.; Li, D.; Hakonarson, H.; Vial, Y.; Zackai, E.; Callier, P.; Drunat, S.; Bhoj, E. E.
Verloes, A, Haye, D, Toutain, A, Bonneau, D, Nielsen, I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault , I , Thiffault , I , Saadi, I , Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Bhoj, E E 2019, 'Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes', European Journal of Human Genetics, vol. 27, no. Suppl. 2, pp. 1517-1518. < https://www.nature.com/articles/s41431-019-0494-2 >
Verloes, A, Haye, D, Toutain, A, Bonneau, D, Nielsen,I K, Lund, I B, Bogaard, P, Leenskjold, S, Karaer, K, Wild, K T, Grand, K L, Astiazaran, M C, Gonzalez-Nieto, L A, Carvalho, A, Lehalle, D, Amudhavalli, S M, Repnikova, E, Saunders, C, Thiffault , I , Thiffault , I , Saadi, I , Li, D, Hakonarson, H, Vial, Y, Zackai, E, Callier, P, Drunat, S & Bhoj, E E 2019, ' Phenotypic spectrum associated with SPECC1L pathogenic variants : new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes ', European Journal of Human Genetics, vol. 27, no. Suppl. 2, pp. 1517-1518 . < https://www.nature.com/articles/s41431-019-0494-2 >
Verloes, A, Haye, D, Toutain, A, Bonneau, D, Nielsen,
Academic Journal
Wojcik, M.H.; Genetti, C.A.; Madden, J.A.; Dash, C.A.; Lin, J.; Huang, J.T.; Beggs, A.H.; Agrawal, P.B.; Miller, D.T.; Clark, R.D.; Rodriguez, A.; Elias, A.F.; Simpson, D.; Golkar, L.; Zalusky, M.P.G.; Miller, A.L.; Goffena, J.; Damaraju, N.; Gibson, S.B.; Storz, S.H.R.; Anderson, Z.B.; Gustafson, J.A.; Miller, D.E.; Thiffault, I.; Farrow, E.G.; Pastinen, T.
In: Human Genetics and Genomics Advances . (Human Genetics and Genomics Advances, 10 July 2025, 6(3))
Academic Journal
Kummeling, J.; Stremmelaar, D.E.; Raun, N.; Reijnders, M.R.; Willemsen, M.H.; Ruiterkamp-Versteeg, M.; Schepens, M.T.M.; Man, C.C.O.; Gilissen, C.F.H.A.; Cho, M.T.; McWalter, K.; Sinnema, M.; Wheless, J.W.; Simon, M.E.; Genetti, C.A.; Casey, A.M.; Terhal, P.A.; van der Smagt, J.J.; van Gassen, K.L.I.; Joset, P.; Bahr, A.; Steindl, K.; Rauch, A.; Keller, E.; Raas-Rothschild, A.; Koolen, D.A.; Agrawal, P.B.; Hoffman, T.L.; Powell-Hamilton, N.N.; Thiffault, I.; Engleman, K.; Zhou, D.; Bodamer, O.; Hoefele, J.; Riedhammer, K.M.; Schwaibold, E.M.C.; Tasic, V.; Schubert, D.; Top, D.; Pfundt, R.P.; Higgs, M.R.; Kramer, J.M.; Kleefstra, T.
Academic Journal
Caylor, R. C.; Grote, L.; Thiffault, I.; Farrow, E. G.; Willig, L.; Soden, S.; Amudhavalli, S. M.; Nopper, A. J.; Horii, K. A.; Fleming, E.; Jenkins, J.; Welsh, H.; Ilyas, M.; Engleman, K.; Abdelmoity, A.; Saunders, C. J.
neurogenetics. :1-9
검색 결과 제한하기
제한된 항목
[Author] Thiffault I
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어