e-Article
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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
'e-Article'
searched 197results | List
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Academic Journal
Rots, Dmitrijs ; Jakub, Taryn E. ; Keung, Crystal ; Jackson, Adam ; Banka, Siddharth ; Pfundt, Rolph ; de Vries, Bert B.A. ; van Jaarsveld, Richard H. ; Hopman, Saskia M.J. ; van Binsbergen, Ellen ; Valenzuela, Irene ; Hempel, Maja ; Bierhals, Tatjana ; Kortüm, Fanny ; Lecoquierre, Francois ; Goldenberg, Alice ; Hertz, Jens Michael ; Andersen, Charlotte Brasch ; Kibæk, Maria ; Prijoles, Eloise J. ; Stevenson, Roger E. ; Everman, David B. ; Patterson, Wesley G. ; Meng, Linyan ; Gijavanekar, Charul ; De Dios, Karl ; Lakhani, Shenela ; Levy, Tess ; Wagner, Matias ; Wieczorek, Dagmar ; Benke, Paul J. ; Lopez Garcia, María Soledad ; Perrier, Renee ; Sousa, Sergio B. ; Almeida, Pedro M. ; Simões, Maria José ; Isidor, Bertrand ; Deb, Wallid ; Schmanski, Andrew A. ; Abdul-Rahman, Omar ; Philippe, Christophe ; Bruel, Ange-Line ; Faivre, Laurence ; Vitobello, Antonio ; Thauvin, Christel ; Smits, Jeroen J. ; Garavelli, Livia ; Caraffi, Stefano G. ; Peluso, Francesca ; Davis-Keppen, Laura ; Platt, Dylan ; Royer, Erin ; Leeuwen, Lisette ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Stumpel, Constance T.R.M. ; Tiller, George E. ; Bosch, Daniëlle G.M. ; Potgieter, Stephanus T. ; Joss, Shelagh ; Splitt, Miranda ; Holden, Simon ; Prapa, Matina ; Foulds, Nicola ; Douzgou, Sofia ; Puura, Kaija ; Waltes, Regina ; Chiocchetti, Andreas G. ; Freitag, Christine M. ; Satterstrom, F. Kyle ; De Rubeis, Silvia ; Buxbaum, Joseph ; Gelb, Bruce D. ; Branko, Aleksic ; Kushima, Itaru ; Howe, Jennifer ; Scherer, Stephen W. ; Arado, Alessia ; Baldo, Chiara ; Patat, Olivier ; Bénédicte, Demeer ; Lopergolo, Diego ; Santorelli, Filippo M. ; Haack, Tobias B. ; Dufke, Andreas ; Bertrand, Miriam ; Falb, Ruth J. ; Rieß, Angelika ; Krieg, Peter ; Spranger, Stephanie ; Bedeschi, Maria Francesca ; Iascone, Maria ; Josephi-Taylor, Sarah ; Roscioli, Tony ; Buckley, Michael F. ; Liebelt, Jan ; Dagli, Aditi I. ; Aten, Emmelien ; Hurst, Anna C.E. ; Hicks, Alesha ; Suri, Mohnish ; Aliu, Ermal ; Naik, Sunil ; Sidlow, Richard ; Coursimault, Juliette ; Nicolas, Gaël ; Küpper, Hanna ; Petit, Florence ; Ibrahim, Veyan ; Top, Deniz ; Di Cara, Francesca ; Louie, Raymond J. ; Stolerman, Elliot ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 1 June 2023 110(6):963-978
Academic Journal
van der Spek, Jet ; den Hoed, Joery ; Snijders Blok, Lot ; Dingemans, Alexander J.M. ; Schijven, Dick ; Nellaker, Christoffer ; Venselaar, Hanka ; Astuti, Galuh D.N. ; Barakat, Tahsin Stefan ; Bebin, E. Martina ; Beck-Wödl, Stefanie ; Beunders, Gea ; Brown, Natasha J. ; Brunet, Theresa ; Brunner, Han G. ; Campeau, Philippe M. ; Čuturilo, Goran ; Gilissen, Christian ; Haack, Tobias B. ; Hüning, Irina ; Husain, Ralf A. ; Kamien, Benjamin ; Lim, Sze Chern ; Lovrecic, Luca ; Magg, Janine ; Maver, Ales ; Miranda, Valancy ; Monteil, Danielle C. ; Ockeloen, Charlotte W. ; Pais, Lynn S. ; Plaiasu, Vasilica ; Raiti, Laura ; Richmond, Christopher ; Rieß, Angelika ; Schwaibold, Eva M.C. ; Simon, Marleen E.H. ; Spranger, Stephanie ; Tan, Tiong Yang ; Thompson, Michelle L. ; de Vries, Bert B.A. ; Wilkins, Ella J. ; Willemsen, Marjolein H. ; Francks, Clyde ; Vissers, Lisenka E.L.M. ; Fisher, Simon E. ; Kleefstra, Tjitske
In Genetics in Medicine June 2022 24(6):1283-1296
Academic Journal
Hengel, Holger ; Hannan, Shabab B. ; Dyack, Sarah ; MacKay, Sara B. ; Schatz, Ulrich ; Fleger, Martin ; Kurringer, Andreas ; Balousha, Ghassan ; Ghanim, Zaid ; Alkuraya, Fowzan S. ; Alzaidan, Hamad ; Alsaif, Hessa S. ; Mitani, Tadahiro ; Bozdogan, Sevcan ; Pehlivan, Davut ; Lupski, James R. ; Gleeson, Joseph J. ; Dehghani, Mohammadreza ; Mehrjardi, Mohammad Y.V. ; Sherr, Elliott H. ; Parks, Kendall C. ; Argilli, Emanuela ; Begtrup, Amber ; Galehdari, Hamid ; Balousha, Osama ; Shariati, Gholamreza ; Mazaheri, Neda ; Malamiri, Reza A. ; Pagnamenta, Alistair T. ; Kingston, Helen ; Banka, Siddharth ; Jackson, Adam ; Osmond, Mathew ; Rieß, Angelika ; Haack, Tobias B. ; Nägele, Thomas ; Schuster, Stefanie ; Hauser, Stefan ; Admard, Jakob ; Casadei, Nicolas ; Velic, Ana ; Macek, Boris ; Ossowski, Stephan ; Houlden, Henry ; Maroofian, Reza ; Schöls, Ludger
In The American Journal of Human Genetics 3 June 2021 108(6):1069-1082
Academic Journal
Vera, Gabriella ; Sorlin, Arthur ; Delplancq, Geoffroy ; Lecoquierre, François ; Brasseur-Daudruy, Marie ; Petit, Florence ; Smol, Thomas ; Ziegler, Alban ; Bonneau, Dominique ; Colin, Estelle ; Mercier, Sandra ; Cogné, Benjamin ; Bézieau, Stéphane ; Edery, Patrick ; Lesca, Gaetan ; Chatron, Nicolas ; Sabatier, Isabelle ; Duban-Bedu, Bénédicte ; Colson, Cindy ; Piton, Amélie ; Durand, Benjamin ; Capri, Yline ; Perrin, Laurence ; Wiesener, Antje ; Zweier, Christiane ; Maroofian, Reza ; Carroll, Christopher J. ; Galehdari, Hamid ; Mazaheri, Neda ; Callewaert, Bert ; Giulianno, Fabienne ; Zaafrane-Khachnaoui, Khaoula ; Buchert-Lo, Rebecca ; Haack, Tobias ; Magg, Janine ; Rieß, Angelika ; Blandfort, Maria ; Waldmüller, Stephan ; Horber, Veronka ; Leonardi, Emanuela ; Polli, Roberta ; Turolla, Licia ; Murgia, Alessandra ; Frebourg, Thierry ; Lebre, Anne Sophie ; Nicolas, Gaël ; Saugier-Veber, Pascale ; Guerrot, Anne-Marie
In European Journal of Medical Genetics October 2020 63(10)
Academic Journal
Laugwitz, Lucia ; Buchert, Rebecca ; Groeschel, Samuel ; Riess, Angelika ; Grimmel, Mona ; Beck-Wödl, Stefanie ; Sturm, Marc ; Gohla, Georg ; Döbler-Neumann, Marion ; Krägeloh-Mann, Ingeborg ; Haack, Tobias B.
In European Journal of Medical Genetics July 2020 63(7)
Academic Journal
Bakshi, Madhura; Wilson, Meredith; Berman, Yemina; Dickson, Rebecca; Fransen, Erik; Helsmoortel, Céline; Van den Ende, Jenneke; Van der Aa, Nathalie; van de Wijdeven, Marina J.; Rosenblum, Jessica; Monteiro, Fabíola; Kok, Fernando; Quercia, Nada; Bowdin, Sarah; Dyment, David; Chitayat, David; Alkhunaizi, Ebba; Boonen, Susanne E.; Keren, Boris; Jacquette, Aurelia; Faivre, Laurence; Bezieau, Stephane; Isidor, Bertrand; Rieß, Angelika; Moog, Ute; Lynch, Sally Ann; McVeigh, Terri; Elpeleg, Orly; Smeland, Marie Falkenberg; Fannemel, Madeleine; van Haeringen, Arie; Maas, Saskia M.; Veenstra-Knol, H.E.; Schouten, Meyke; Willemsen, Marjolein H.; Marcelis, Carlo L.; Ockeloen, Charlotte; van der Burgt, Ineke; Feenstra, Ilse; van der Smagt, Jasper; Jezela-Stanek, Aleksandra; Krajewska-Walasek, Malgorzata; González-Lamuño, Domingo; Anderlid, Britt-Marie; Malmgren, Helena; Nordenskjöld, Magnus; Clement, Emma; Hurst, Jane; Metcalfe, Kay; Mansour, Sahar; Lachlan, Katherine; Clayton-Smith, Jill; Hendon, Laura G.; Abdulrahman, Omar A.; Morrow, Eric; McMillan, Clare; Gerdts, Jennifer; Peeden, Joseph; Schrier Vergano, Samantha A.; Valentino, Caitlin; Chung, Wendy K.; Ozmore, Jillian R.; Bedrosian-Sermone, Sandra; Dennis, Anna; Treat, Kayla; Hughes, Susan Starling; Safina, Nicole; Le Pichon, Jean-Baptiste; McGuire, Marianne; Infante, Elena; Madan-Khetarpal, Suneeta; Desai, Sonal; Benke, Paul; Krokosky, Alyson; Cristian, Ingrid; Baker, Laura; Gripp, Karen; Stessman, Holly A.; Eichenberger, Jacob; Jayakar, Parul; Pizzino, Amy; Manning, Melanie Ann; Slattery, Leah; Van Dijck, Anke ; Vulto-van Silfhout, Anneke T. ; Cappuyns, Elisa ; van der Werf, Ilse M. ; Mancini, Grazia M. ; Tzschach, Andreas ; Bernier, Raphael ; Gozes, Illana ; Eichler, Evan E. ; Romano, Corrado ; Lindstrand, Anna ; Nordgren, Ann ; Kvarnung, Malin ; Kleefstra, Tjitske ; de Vries, Bert B.A. ; Küry, Sébastien ; Rosenfeld, Jill A. ; Meuwissen, Marije E. ; Vandeweyer, Geert ; Kooy, R. Frank
In Biological Psychiatry 15 February 2019 85(4):287-297
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Mitter, Diana ; Pringsheim, Milka ; Kaulisch, Marc ; Plümacher, Kim Sarah ; Schröder, Simone ; Warthemann, Rita ; Abou Jamra, Rami ; Baethmann, Martina ; Bast, Thomas ; Büttel, Hans-Martin ; Cohen, Julie S. ; Conover, Elizabeth ; Courage, Carolina ; Eger, Angelika ; Fatemi, Ali ; Grebe, Theresa A. ; Hauser, Natalie S. ; Heinritz, Wolfram ; Helbig, Katherine L. ; Heruth, Marion ; Huhle, Dagmar ; Höft, Karen ; Karch, Stephanie ; Kluger, Gerhard ; Korenke, G. Christoph ; Lemke, Johannes R. ; Lutz, Richard E. ; Patzer, Steffi ; Prehl, Isabelle ; Hoertnagel, Konstanze ; Ramsey, Keri ; Rating, Tina ; Rieß, Angelika ; Rohena, Luis ; Schimmel, Mareike ; Westman, Rachel ; Zech, Frank-Martin ; Zoll, Barbara ; Malzahn, Dörthe ; Zirn, Birgit ; Brockmann, Knut
In Genetics in Medicine January 2018 20(1):98-108
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Kouz, Karim ; Lissewski, Christina ; Spranger, Stephanie ; Mitter, Diana ; Riess, Angelika ; Lopez-Gonzalez, Vanesa ; Lüttgen, Sabine ; Aydin, Hatip ; von Deimling, Florian ; Evers, Christina ; Hahn, Andreas ; Hempel, Maja ; Issa, Ulrike ; Kahlert, Anne-Karin ; Lieb, Adrian ; Villavicencio-Lorini, Pablo ; Ballesta-Martinez, Maria Juliana ; Nampoothiri, Sheela ; Ovens-Raeder, Angela ; Puchmajerová, Alena ; Satanovskij, Robin ; Seidel, Heide ; Unkelbach, Stephan ; Zabel, Bernhard ; Kutsche, Kerstin ; Zenker, Martin
In Genetics in Medicine December 2016 18(12):1226-1234
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Rieß, Angelika ; Binder, Gerhard ; Ziegler, Julian ; Begemann, Matthias ; Soellner, Lukas ; Eggermann, Thomas
In European Journal of Medical Genetics January 2016 59(1):1-4
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Menden, Benita; Incebacak Eltemur, Rana D.; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Numann, Astrid; Baumann, Alexander; Diets, Illja J.; Dufke, Claudia; Regensburger, Martin; Ronnefarth, Maria; Wilke, Vera; Van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W.; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschutz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schutz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B.; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J.; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Glaser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Kessler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Kupper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G.; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M. C.; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Zuchner, Stephan; Zittel, Simone; Van De Warrenburg, Bart; Husain, Ralf A.; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbaumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E.; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jurgen; Timmann, Dagmar; Synofzik, Matthis; Schule, Rebecca; Schols, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J.; Haack, Tobias B.
Academic Journal
Rots, Dmitrijs; Jakub, Taryn E.; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard H.; Hopman, Saskia M.J.; van Binsbergen, Ellen; Valenzuela, Irene; Hempel, Maja; Bierhals, Tatjana; Kortüm, Fanny; Lecoquierre, Francois; Goldenberg, Alice; Hertz, Jens Michael; Andersen, Charlotte Brasch; Kibæk, Maria; Prijoles, Eloise J.; Stevenson, Roger E.; Everman, David B.; Patterson, Wesley G.; Meng, Linyan; Gijavanekar, Charul; De Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul J.; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio B.; Almeida, Pedro M.; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew A.; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen J.; Garavelli, Livia; Caraffi, Stefano G.; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George E.; Bosch, Daniëlle G.M.; Potgieter, Stephanus T.; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas G.; Freitag, Christine M.; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce D.; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen W.; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo M.; Haack, Tobias B.; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth J.; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael F.; Liebelt, Jan; Dagli, Aditi I.; Aten, Emmelien; Hurst, Anna C.E.; Hicks, Alesha; Suri, Mohnish; Aliu, Ermal; Naik, Sunil; Sidlow, Richard; Coursimault, Juliette; Nicolas, Gaël; Küpper, Hanna; Petit, Florence; Ibrahim, Veyan; Top, Deniz; Di Cara, Francesca; Louie, Raymond J.; Stolerman, Elliot; Brunner, Han G.; Vissers, Lisenka E.L.M.; Kramer, Jamie M. ; Kleefstra, Tjitske
In The American Journal of Human Genetics 6 November 2025 112(11):2814-2814
Academic Journal
Riess, Angelika; Roggia, Cristiana; Selting, Antje Schulze; Lysenkov, Vladislav; Ossowski, Stephan; Casadei, Nicolas; Riess, Olaf; Singh, Yogesh
Academic Journal
Rauch, Anita ; Wieczorek, Dagmar ; Graf, Elisabeth ; Wieland, Thomas ; Endele, Sabine ; Schwarzmayr, Thomas ; Albrecht, Beate ; Bartholdi, Deborah ; Beygo, Jasmin ; Di Donato, Nataliya ; Dufke, Andreas ; Cremer, Kirsten ; Hempel, Maja ; Horn, Denise ; Hoyer, Juliane ; Joset, Pascal ; Röpke, Albrecht ; Moog, Ute ; Riess, Angelika ; Thiel, Christian T ; Tzschach, Andreas ; Wiesener, Antje ; Wohlleber, Eva ; Zweier, Christiane ; Ekici, Arif B ; Zink, Alexander M ; Rump, Andreas ; Meisinger, Christa ; Grallert, Harald ; Sticht, Heinrich ; Schenck, Annette ; Engels, Hartmut ; Rappold, Gudrun ; Schröck, Evelin ; Wieacker, Peter ; Riess, Olaf ; Meitinger, Thomas ; Reis, André ; Strom, Tim M
In The Lancet 10-16 November 2012 380(9854):1674-1682
Academic Journal
McRae, Jeremy F.; Clayton, Stephen; Fitzgerald, Tomas W.; Kaplanis, Joanna; Prigmore, Elena; Rajan, Diana; Sifrim, Alejandro; Aitken, Stuart; Akawi, Nadia; Alvi, Mohsan; Ambridge, Kirsty; Barrett, Daniel M.; Bayzetinova, Tanya; Jones, Philip; Jones, Wendy D.; King, Daniel; Krishnappa, Netravathi; Mason, Laura E.; Singh, Tarjinder; Tivey, Adrian R.; Ahmed, Munaza; Anjum, Uruj; Archer, Hayley; Armstrong, Ruth; Awada, Jana; Balasubramanian, Meena; Banka, Siddharth; Baralle, Diana; Barnicoat, Angela; Batstone, Paul; Baty, David; Bennett, Chris; Berg, Jonathan; Bernhard, Birgitta; Bevan, A. Paul; Bitner-Glindzicz, Maria; Blair, Edward; Blyth, Moira; Bohanna, David; Bourdon, Louise; Bourn, David; Bradley, Lisa; Brady, Angela; Brent, Simon; Brewer, Carole; Brunstrom, Kate; Bunyan, David J.; Burn, John; Canham, Natalie; Castle, Bruce; Chandler, Kate; Chatzimichali, Elena; Cilliers, Deirdre; Clarke, Angus; Clasper, Susan; Clayton-Smith, Jill; Clowes, Virginia; Coates, Andrea; Cole, Trevor; Colgiu, Irina; Collins, Amanda; Collinson, Morag N.; Connell, Fiona; Cooper, Nicola; Cox, Helen; Cresswell, Lara; Cross, Gareth; Crow, Yanick; D’Alessandro, Mariella; Dabir, Tabib; Davidson, Rosemarie; Davies, Sally; de Vries, Dylan; Dean, John; Deshpande, Charu; Devlin, Gemma; Dixit, Abhijit; Dobbie, Angus; Donaldson, Alan; Donnai, Dian; Donnelly, Deirdre; Donnelly, Carina; Douglas, Angela; Douzgou, Sofia; Duncan, Alexis; Eason, Jacqueline; Ellard, Sian; Ellis, Ian; Elmslie, Frances; Evans, Karenza; Everest, Sarah; Fendick, Tina; Fisher, Richard; Flinter, Frances; Foulds, Nicola; Fry, Andrew; Fryer, Alan; Gardiner, Carol; Gaunt, Lorraine; Ghali, Neeti; Gibbons, Richard; Gill, Harinder; Goodship, Judith; Goudie, David; Gray, Emma; Green, Andrew; Greene, Philip; Greenhalgh, Lynn; Gribble, Susan; Harrison, Rachel; Harrison, Lucy; Harrison, Victoria; Hawkins, Rose; He, Liu; Hellens, Stephen; Henderson, Alex; Hewitt, Sarah; Hildyard, Lucy; Hobson, Emma; Holden, Simon; Holder, Muriel; Holder, Susan; Hollingsworth, Georgina; Homfray, Tessa; Humphreys, Mervyn; Hurst, Jane; Hutton, Ben; Ingram, Stuart; Irving, Melita; Islam, Lily; Jackson, Andrew; Jarvis, Joanna; Jenkins, Lucy; Johnson, Diana; Jones, Elizabeth; Josifova, Dragana; Joss, Shelagh; Kaemba, Beckie; Kazembe, Sandra; Kelsell, Rosemary; Kerr, Bronwyn; Kingston, Helen; Kini, Usha; Kinning, Esther; Kirby, Gail; Kirk, Claire; Kivuva, Emma; Kraus, Alison; Kumar, Dhavendra; Kumar, V. 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In The American Journal of Human Genetics 6 June 2019 104(6):1210-1222
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Marbach, Felix ; Rustad, Cecilie F. ; Riess, Angelika ; Đukić, Dejan ; Hsieh, Tzung-Chien ; Jobani, Itamar ; Prescott, Trine ; Bevot, Andrea ; Erger, Florian ; Houge, Gunnar ; Redfors, Maria ; Altmueller, Janine ; Stokowy, Tomasz ; Gilissen, Christian ; Kubisch, Christian ; Scarano, Emanuela ; Mazzanti, Laura ; Fiskerstrand, Torunn ; Krawitz, Peter M. ; Lessel, Davor ; Netzer, Christian
In The American Journal of Human Genetics 4 April 2019 104(4):749-757
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Tan, Tiong Yang ; Gonzaga-Jauregui, Claudia ; Bhoj, Elizabeth J. ; Strauss, Kevin A. ; Brigatti, Karlla ; Puffenberger, Erik ; Li, Dong ; Xie, LiQin ; Das, Nanditha ; Skubas, Ioanna ; Deckelbaum, Ron A. ; Hughes, Virginia ; Brydges, Susannah ; Hatsell, Sarah ; Siao, Chia-Jen ; Dominguez, Melissa G. ; Economides, Aris ; Overton, John D. ; Mayne, Valerie ; Simm, Peter J. ; Jones, Bryn O. ; Eggers, Stefanie ; Le Guyader, Gwenaël ; Pelluard, Fanny ; Haack, Tobias B. ; Sturm, Marc ; Riess, Angelika ; Waldmueller, Stephan ; Hofbeck, Michael ; Steindl, Katharina ; Joset, Pascal ; Rauch, Anita ; Hakonarson, Hakon ; Baker, Naomi L. ; Farlie, Peter G.
In The American Journal of Human Genetics 7 December 2017 101(6):985-994
Academic Journal
Paulet, Alix; Bennett-Ness, Cavan; Ageorges, Faustine; Trost, Detlef; Green, Andrew; Goudie, David; Jewell, Rosalyn; Kraatari-Tiri, Minna; Piard, Juliette; Coubes, Christine; Lam, Wayne; Lynch, Sally Ann; Groeschel, Samuel; Ramond, Francis; Fluss, Joel Victor; Fagerberg, Christina; Brasch Andersen, Charlotte; Varvagiannis, Konstantinos; Kleefstra, Tjitske; Gérard, Bénédicte; Fradin, Mélanie; Vitobello, Antonio; Tenconi, Romano; Denommé-Pichon, Anne-Sophie; Vincent-Devulder, Aline; Haack, Tobias; Marsh, Joseph A; Laulund, Lone Walentin; Grimmel, Mona; Riess, Angelika; de Boer, Elke; Padilla-Lopez, Sergio; Bakhtiari, Somayeh; Ostendorf, Adam; Zweier, Christiane; Smol, Thomas; Willems, Marjolaine; Faivre, Laurence; Scala, Marcello; Striano, Pasquale; Bagnasco, Irene; Koboldt, Daniel; Iascone, Maria; Suerink, Manon; Kruer, Michael C; Levy, Jonathan; Verloes, Alain; Abbott, Catherine M; Ruaud, Lyse
Eur J Hum Genet
European Journal of Human Genetics, 32, 9, pp. 1144-1149
Paulet, A, Bennett-Ness, C, Ageorges, F, Trost, D, Green, A, Goudie, D, Jewell, R, Kraatari-Tiri, M, Piard, J, Coubes, C, Lam, W, Lynch, S A, Samuel, G, Ramond, F, Fluss, J, Fagerberg, C, Brasch Andersen, C, Varvagiannis, K, Kleefstra, T, Gérard, B, Fradin, M, Vitobello, A, Tenconi, R, Denommé-Pichon, A-S, Vincent-Devulder, A, Haack, T, Marsh, J A, Laulund, L W, Grimmel, M, Riess, A, de Boer, E, Padilla-Lopez, S, Bakhtiari, S, Kruer, M C, Levy, J, Verloes, A, Abbott, C M & Ruaud, L 2024, ' Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01560-8
European Journal of Human Genetics, 32, 9, pp. 1144-1149
Paulet, A, Bennett-Ness, C, Ageorges, F, Trost, D, Green, A, Goudie, D, Jewell, R, Kraatari-Tiri, M, Piard, J, Coubes, C, Lam, W, Lynch, S A, Samuel, G, Ramond, F, Fluss, J, Fagerberg, C, Brasch Andersen, C, Varvagiannis, K, Kleefstra, T, Gérard, B, Fradin, M, Vitobello, A, Tenconi, R, Denommé-Pichon, A-S, Vincent-Devulder, A, Haack, T, Marsh, J A, Laulund, L W, Grimmel, M, Riess, A, de Boer, E, Padilla-Lopez, S, Bakhtiari, S, Kruer, M C, Levy, J, Verloes, A, Abbott, C M & Ruaud, L 2024, ' Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study ', European Journal of Human Genetics . https://doi.org/10.1038/s41431-024-01560-8
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Chen, Yuyang; Dawes, Ruebena; Kim, Hyung Chul; Ljungdahl, Alicia; Stenton, Sarah L.; Walker, Susan; Lord, Jenny; Lemire, Gabrielle; Martin-Geary, Alexandra C.; Ganesh, Vijay S.; Ma, Jialan; Ellingford, Jamie M.; Delage, Erwan; D’Souza, Elston N.; Dong, Shan; Adams, David R.; Allan, Kirsten; Bakshi, Madhura; Baldwin, Erin E.; Berger, Seth I.; Bernstein, Jonathan A.; Bhatnagar, Ishita; Blair, Ed; Brown, Natasha J.; Burrage, Lindsay C.; Chapman, Kimberly; Coman, David J.; Compton, Alison G.; Cunningham, Chloe A.; D’Souza, Precilla; Danecek, Petr; Délot, Emmanuèle C.; Dias, Kerith-Rae; Elias, Ellen R.; Elmslie, Frances; Evans, Care-Anne; Ewans, Lisa; Ezell, Kimberly; Fraser, Jamie L.; Gallacher, Lyndon; Genetti, Casie A.; Goriely, Anne; Grant, Christina L.; Haack, Tobias; Higgs, Jenny E.; Hinch, Anjali G.; Hurles, Matthew E.; Kuechler, Alma; Lachlan, Katherine L.; Lalani, Seema R.; Lecoquierre, François; Leitão, Elsa; Fevre, Anna Le; Leventer, Richard J.; Liebelt, Jan E.; Lindsay, Sarah; Lockhart, Paul J.; Ma, Alan S.; Macnamara, Ellen F.; Mansour, Sahar; Maurer, Taylor M.; Mendez, Hector R.; Metcalfe, Kay; Montgomery, Stephen B.; Moosajee, Mariya; Nassogne, Marie-Cécile; Neumann, Serena; O’Donoghue, Michael; O’Leary, Melanie; Palmer, Elizabeth E.; Pattani, Nikhil; Phillips, John; Pitsava, Georgia; Pysar, Ryan; Rehm, Heidi L.; Reuter, Chloe M.; Revencu, Nicole; Riess, Angelika; Rius, Rocio; Rodan, Lance; Roscioli, Tony; Rosenfeld, Jill A.; Sachdev, Rani; Shaw-Smith, Charles J.; Simons, Cas; Sisodiya, Sanjay M.; Snell, Penny; St Clair, Laura; Stark, Zornitza; Stewart, Helen S.; Tan, Tiong Yang; Tan, Natalie B.; Temple, Suzanna E. L.; Thorburn, David R.; Tifft, Cynthia J.; Uebergang, Eloise; VanNoy, Grace E.; Vasudevan, Pradeep; Vilain, Eric; Viskochil, David H.; Wedd, Laura; Wheeler, Matthew T.; White, Susan M.; Wojcik, Monica; Wolfe, Lynne A.; Wolfenson, Zoe; Wright, Caroline F.; Xiao, Changrui; Zocche, David; Rubenstein, John L.; Markenscoff-Papadimitriou, Eirene; Fica, Sebastian M.; Baralle, Diana; Depienne, Christel; MacArthur, Daniel G.; Howson, Joanna M. M.; Sanders, Stephan J.; O’Donnell-Luria, Anne; Whiffin, Nicola
Nature: International weekly journal of science. 632(8026):832-840
Academic Journal
Gburek-Augustat, Janina ; Beck-Woedl, Stefanie ; Tzschach, Andreas ; Bauer, Peter ; Schoening, Martin ; Riess, Angelika
In European Journal of Paediatric Neurology July 2016 20(4):661-665
Academic Journal
Morison, Lottie D.; Meffert, Elisabeth; Stampfer, Miriam; Steiner-Wilke, Irene; Vollmer, Brigitte; Schulze, Katrin; Briggs, Tracy; Braden, Ruth; Vogel, Adam; Thompson-Lake, Daisy; Patel, Chirag; Blair, Edward; Goel, Himanshu; Turner, Samantha; Moog, Ute; Riess, Angelika; Liegeois, Frederique; Koolen, David A.; Amor, David J.; Kleefstra, Tjitske
Journal of Medical Genetics; Jun2023, Vol. 60 Issue 6, p597-607, 11p
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[AR] Rieß, Angelika
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