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 174건 | 목록
1~20
Academic Journal
Drost, Mark; Dekker, Jordy; Ferraro, Federico; Kasteleijn, Esmee; Verschuren, Marije; Kroon, Evelien; Douben, Hannie C.W.; Vogt, Inte; van Unen, Leontine; Hoogeveen-Westerveld, Marianne; Elfferich, Peter; Schot, Rachel; Calandrini, Camilla; Korpershoek, Esther; Sleutels, Frank; Brüggenwirth, Hennie B.R.; Hollink, Iris R.; Meerstein-Kessel, Lisette; Hoefsloot, Lies H.; van Slegtenhorst, Marjon; Wilke, Martina; Weerts, Marjolein J.A.; van Minkelen, Rick; Wagner, Anja; Bouman, Arjan; van Paassen, Barbara W.; Verheijen-Mancini, Grazia M.; van de Laar, Ingrid M.B.H.; Kievit, Anneke J.A.; Verhagen, Judith M.A.; Stuurman, Kyra E.; Donker Kaat, Laura; van Dooren, Marieke F.; Wessels, Marja W.; Oldenburg, Rogier A.; Zeidler, Shimriet; van Dijk, Tessa; Barakat, Tahsin Stefan; Verhoeven, Virginie J.M.; van Bever, Yolande; van Ierland, Yvette; Bannink, Natalja; van Koningsbruggen, Silvana; Lakeman, Phillis; Leeuwen, Lisette; Verbeek, Nienke E.; Sinnema, Margje; Heijligers, Malou; van Asperen, Christi J.; Saris, Jasper J.; Nellist, Mark; van Ham, Tjakko J.
Human Genetics and Genomics Advances. 7(1)
Academic Journal
Scott, Abbey; Iglesias, Alejandro; McConkie-Rosell, Allyn; Kritzer, Amy; Boto, Ana; Lewis, Andi M.; Tzschach, Andreas; Nicosia, Annarita; O’Donnell-Luria, Anne; Peron, Angela; Thuresson, Ann-Charlotte; Vulto-van-Silfhout, Anneke; Novelli, Antonio; Plomp, Astrid S.; Gangaram, Balram; Gil-Fournier, Belén; Keren, Boris; Genetti, Casie; De Luca, Chiara; Schaaf, Christian P.; Beneteau, Claire; Graziani, Daniela; Scott, Daryl A.; Koolen, David A.; Geneviéve, David; Bax, Dorine; Leslie, Elizabeth J.; Mizerik, Elizabeth; Roeder, Elizabeth; Magness, Emily; Nibbeling, Esther; Lesca, Gaetan; Annerén, Göran; Enns, Gregory M.; Van Esch, Hilde; Goel, Himanshu; Quintela, Inés; Cobben, Jan; Morrison, Jennifer L.; Eiris, Jesus; Stoler, Joan; Gao, Josephine; Steindl, Katharina; Dipple, Katrina; Kolokotronis, Konstantinos; Seaver, Laurie H.; Pollack, Lynda; Motazacker, Mahdi; Gasparri, Manuela; Sinnema, Margje; Digilio, Maria Cristina; McDonald, Marie T.; Ramírez, Marisol Ibarra; Doco-Fenzy, Martine; Kucharczyk, Marzena; Nizon, Mathilde; Boothe, Megan; O'Leary, Melanie C.; Carter, Melissa T.; Ross, Meredith; Wilson, Meredith; Klaassens, Merel; Ginevrino, Monia; Wojcik, Monica Hsiung; Robin, Nathaniel; Chatron, Nicolas; Boute, Odile; Agrawal, Pankaj; Fontana, Paolo; Zanoni, Paolo; Joset, Pascal; Torring, Pernille M.; Billie Au, Ping Yee; Stevens, Servi; León, Soraya Ramiro; Baskin, Stephanie; DiTroia, Stephanie Parker; Siow, Sue-Faye; Demaret, Tanguy; Plaiasu, Vasilica; Clowes, Virginia; Luo, Xi; Hilhorst-Hofstee, Yvonne; Pérez Baca, María del Rocío ; Palomares-Bralo, María ; Vanhooydonck, Michiel ; Hamerlinck, Lisa ; D’haene, Eva ; Leimbacher, Sebastian ; Jacobs, Eva Z. ; De Cock, Laurenz ; D’haenens, Erika ; Dheedene, Annelies ; Malfait, Zoë ; Vantomme, Lies ; Silva, Ananilia ; Rooney, Kathleen ; Zhao, Xiaonan ; Saeidian, Amir Hossein ; Owen, Nichole Marie ; Santos-Simarro, Fernando ; Lleuger-Pujol, Roser ; García-Miñaúr, Sixto ; Losantos-García, Itsaso ; Menten, Björn ; Gestri, Gaia ; Ragge, Nicola ; Sadikovic, Bekim ; Bogaert, Elke ; Vleminckx, Kris ; Naert, Thomas ; Syx, Delfien ; Callewaert, Bert ; Vergult, Sarah
In The American Journal of Human Genetics 5 June 2025 112(6):1388-1414
Academic Journal
Jana Willim; Daniel Woike; Daniel Greene; Sarada Das; Kevin Pfeifer; Weimin Yuan; Anika Lindsey; Omar Itani; Amber L. Böhme; Debora Tibbe; Hans-Hinrich Hönck; Fatemeh Hassani Nia; Undiagnosed Diseases Network; Michael Zech; Theresa Brunet; Laurence Faivre; Arthur Sorlin; Antonio Vitobello; Thomas Smol; Cindy Colson; Kristin Baranano; Krista Schatz; Allan Bayat; Kelly Schoch; Rebecca Spillmann; Erica E. Davis; Erin Conboy; Francesco Vetrini; Konrad Platzer; Sonja Neuser; Janina Gburek-Augustat; Alexandra Noel Grace; Bailey Mitchell; Alexander Stegmann; Margje Sinnema; Naomi Meeks; Carol Saunders; Maxime Cadieux-Dion; Juliane Hoyer; Julien Van-Gils; Jean-Madeleine de Sainte-Agathe; Michelle L. Thompson; E. Martina Bebin; Monika Weisz-Hubshman; Anne-Claude Tabet; Alain Verloes; Jonathan Levy; Xenia Latypova; Sönke Harder; Gary A. Silverman; Stephen C. Pak; Tim Schedl; Kathleen Freson; Andrew Mumford; Ernest Turro; Christian Schlein; Vandana Shashi; Hans-Jürgen Kreienkamp
Nature Communications, Vol 15, Iss 1, Pp 1-18 (2024)
Academic Journal
Rots, Dmitrijs ; Choufani, Sanaa ; Faundes, Victor ; Dingemans, Alexander J.M. ; Joss, Shelagh ; Foulds, Nicola ; Jones, Elizabeth A. ; Stewart, Sarah ; Vasudevan, Pradeep ; Dabir, Tabib ; Park, Soo-Mi ; Jewell, Rosalyn ; Brown, Natasha ; Pais, Lynn ; Jacquemont, Sébastien ; Jizi, Khadijé ; Ravenswaaij-Arts, Conny M.A. van ; Kroes, Hester Y. ; Stumpel, Constance T.R. M. ; Ockeloen, Charlotte W. ; Diets, Illja J. ; Nizon, Mathilde ; Vincent, Marie ; Cogné, Benjamin ; Besnard, Thomas ; Kambouris, Marios ; Anderson, Emily ; Zackai, Elaine H. ; McDougall, Carey ; Donoghue, Sarah ; O'Donnell-Luria, Anne ; Valivullah, Zaheer ; O'Leary, Melanie ; Srivastava, Siddharth ; Byers, Heather ; Leslie, Nancy ; Mazzola, Sarah ; Tiller, George E. ; Vera, Moin ; Shen, Joseph J. ; Boles, Richard ; Jain, Vani ; Brischoux-Boucher, Elise ; Kinning, Esther ; Simpson, Brittany N. ; Giltay, Jacques C. ; Harris, Jacqueline ; Keren, Boris ; Guimier, Anne ; Marijon, Pierre ; Vries, Bert B.A. de ; Motter, Constance S. ; Mendelsohn, Bryce A. ; Coffino, Samantha ; Gerkes, Erica H. ; Afenjar, Alexandra ; Visconti, Paola ; Bacchelli, Elena ; Maestrini, Elena ; Delahaye-Duriez, Andree ; Gooch, Catherine ; Hendriks, Yvonne ; Adams, Hieab ; Thauvin-Robinet, Christel ; Josephi-Taylor, Sarah ; Bertoli, Marta ; Parker, Michael J. ; Rutten, Julie W. ; Caluseriu, Oana ; Vernon, Hilary J. ; Kaziyev, Jonah ; Zhu, Jia ; Kremen, Jessica ; Frazier, Zoe ; Osika, Hailey ; Breault, David ; Nair, Sreelata ; Lewis, Suzanne M.E. ; Ceroni, Fabiola ; Viggiano, Marta ; Posar, Annio ; Brittain, Helen ; Giovanna, Traficante ; Giulia, Gori ; Quteineh, Lina ; Ha-Vinh Leuchter, Russia ; Zonneveld-Huijssoon, Evelien ; Mellado, Cecilia ; Marey, Isabelle ; Coudert, Alicia ; Aracena Alvarez, Mariana Inés ; Kennis, Milou G.P. ; Bouman, Arianne ; Roifman, Maian ; Amorós Rodríguez, María Inmaculada ; Ortigoza-Escobar, Juan Dario ; Vernimmen, Vivian ; Sinnema, Margje ; Pfundt, Rolph ; Brunner, Han G. ; Vissers, Lisenka E.L.M. ; Kleefstra, Tjitske ; Weksberg, Rosanna ; Banka, Siddharth
In The American Journal of Human Genetics 8 August 2024 111(8):1626-1642
Academic Journal
Rots, Dmitrijs; Jakub, Taryn; Keung, Crystal; Jackson, Adam; Banka, Siddharth; Pfundt, Rolph; de Vries, Bert B.A.; van Jaarsveld, Richard; 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; Stevenson, Roger; Everman, David; Patterson, Wesley; Meng, Linyan; Gijavanekar, Charul; de Dios, Karl; Lakhani, Shenela; Levy, Tess; Wagner, Matias; Wieczorek, Dagmar; Benke, Paul; Lopez Garcia, María Soledad; Perrier, Renee; Sousa, Sergio; Almeida, Pedro; Simões, Maria José; Isidor, Bertrand; Deb, Wallid; Schmanski, Andrew; Abdul-Rahman, Omar; Philippe, Christophe; Bruel, Ange-Line; Faivre, Laurence; Vitobello, Antonio; Thauvin, Christel; Smits, Jeroen; Garavelli, Livia; Caraffi, Stefano; Peluso, Francesca; Davis-Keppen, Laura; Platt, Dylan; Royer, Erin; Leeuwen, Lisette; Sinnema, Margje; Stegmann, Alexander P.A.; Stumpel, Constance T.R.M.; Tiller, George; Bosch, Daniëlle G.M.; Potgieter, Stephanus; Joss, Shelagh; Splitt, Miranda; Holden, Simon; Prapa, Matina; Foulds, Nicola; Douzgou, Sofia; Puura, Kaija; Waltes, Regina; Chiocchetti, Andreas; Freitag, Christine; Satterstrom, F. Kyle; De Rubeis, Silvia; Buxbaum, Joseph; Gelb, Bruce; Branko, Aleksic; Kushima, Itaru; Howe, Jennifer; Scherer, Stephen; Arado, Alessia; Baldo, Chiara; Patat, Olivier; Bénédicte, Demeer; Lopergolo, Diego; Santorelli, Filippo; Haack, Tobias; Dufke, Andreas; Bertrand, Miriam; Falb, Ruth; Rieß, Angelika; Krieg, Peter; Spranger, Stephanie; Bedeschi, Maria Francesca; Iascone, Maria; Josephi-Taylor, Sarah; Roscioli, Tony; Buckley, Michael; Liebelt, Jan; Dagli, Aditi; 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; Stolerman, Elliot; Brunner, Han; Vissers, Lisenka E.L.M.; Kramer, Jamie; Kleefstra, Tjitske
American Journal of Human Genetics, 110, 6, pp. 963-978
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M, Bierhals, T, Kortüm, F, Lecoquierre, F, Goldenberg, A, Hertz, J M, Andersen, C B, Kibæk, M, Prijoles, E J, Stevenson, R E, Everman, D B, Patterson, W G, Meng, L, Gijavanekar, C, De Dios, K, Lakhani, S, Levy, T, Wagner, M, Wieczorek, D, Benke, P J, Lopez Garcia, M S, Perrier, R, Sousa, S B, Simões, M J, Isidor, B, Deb, W, Schmanski, A A, Abdul-Rahman, O, Philippe, C, Bruel, A-L, Faivre, L, Vitobello, A, Thauvin, C, Smits, J J, Garavelli, L, Caraffi, S G, Peluso, F, Davis-Keppen, L & Douzgou, S 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 6, pp. 963-978. https://doi.org/10.1016/j.ajhg.2023.04.008
Am. J. Hum. Genet. 110, 963-978 (2023)
Genomics England Research Consortium, Rots, D, Jakub, T E, Keung, C, Jackson, A, Banka, S, Pfundt, R, de Vries, B B A, van Jaarsveld, R H, Hopman, S M J, van Binsbergen, E, Valenzuela, I, Hempel, M, Bierhals, T, Kortüm, F, Lecoquierre, F, Goldenberg, A, Hertz, J M, Andersen, C B, Kibæk, M, Prijoles, E J, Stevenson, R E, Everman, D B, Patterson, W G, Meng, L, Gijavanekar, C, De Dios, K, Lakhani, S, Levy, T, Wagner, M, Wieczorek, D, Benke, P J, Lopez Garcia, M S, Perrier, R, Sousa, S B, Simões, M J, Isidor, B, Deb, W, Schmanski, A A, Abdul-Rahman, O, Philippe, C, Bruel, A-L, Faivre, L, Vitobello, A, Thauvin, C, Smits, J J, Garavelli, L, Caraffi, S G, Peluso, F, Davis-Keppen, L & Douzgou, S 2023, 'The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder', American Journal of Human Genetics, vol. 110, no. 6, pp. 963-978. https://doi.org/10.1016/j.ajhg.2023.04.008
Academic Journal
Deb, Wallid ; Rosenfelt, Cory ; Vignard, Virginie ; Papendorf, Jonas Johannes ; Möller, Sophie ; Wendlandt, Martin ; Studencka-Turski, Maja ; Cogné, Benjamin ; Besnard, Thomas ; Ruffier, Léa ; Toutain, Bérénice ; Poirier, Léa ; Cuinat, Silvestre ; Kritzer, Amy ; Crunk, Amy ; diMonda, Janette ; Vengoechea, Jaime ; Mercier, Sandra ; Kleinendorst, Lotte ; van Haelst, Mieke M. ; Zuurbier, Linda ; Sulem, Telma ; Katrínardóttir, Hildigunnur ; Friðriksdóttir, Rún ; Sulem, Patrick ; Stefansson, Kari ; Jonsdottir, Berglind ; Zeidler, Shimriet ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Naveh, Natali ; Skraban, Cara M. ; Gray, Christopher ; Murrell, Jill R. ; Isikay, Sedat ; Pehlivan, Davut ; Calame, Daniel G. ; Posey, Jennifer E. ; Nizon, Mathilde ; McWalter, Kirsty ; Lupski, James R. ; Isidor, Bertrand ; Bolduc, François V. ; Bézieau, Stéphane ; Krüger, Elke ; Küry, Sébastien ; Ebstein, Frédéric
In The American Journal of Human Genetics 11 July 2024 111(7):1352-1369
Academic Journal
Burrage, Lindsay C.; Heaney, Jason D.; Kim, Seon-Young; Lanza, Denise G.; Liu, Zhandong; Mao, Dongxue; Milosavljevic, Aleksander; Nagamani, Sandesh C.S.; Posey, Jennifer E.; Ramamurthy, Uma; Ramanathan, Vivek; Rogers, Jeffrey; Rosenfeld, Jill A.; Roth, Matthew; Zahedi Darshoori, Ramin; Pan, Xueyang ; Tao, Alice M. ; Lu, Shenzhao ; Ma, Mengqi ; Hannan, Shabab B. ; Slaugh, Rachel ; Drewes Williams, Sarah ; O'Grady, Lauren ; Kanca, Oguz ; Person, Richard ; Carter, Melissa T. ; Platzer, Konrad ; Schnabel, Franziska ; Abou Jamra, Rami ; Roberts, Amy E. ; Newburger, Jane W. ; Revah-Politi, Anya ; Granadillo, Jorge L. ; Stegmann, Alexander P.A. ; Sinnema, Margje ; Accogli, Andrea ; Salpietro, Vincenzo ; Capra, Valeria ; Ghaloul-Gonzalez, Lina ; Brueckner, Martina ; Simon, Marleen E.H. ; Sweetser, David A. ; Glinton, Kevin E. ; Kirk, Susan E. ; Wangler, Michael F. ; Yamamoto, Shinya ; Chung, Wendy K. ; Bellen, Hugo J.
In The American Journal of Human Genetics 4 April 2024 111(4):742-760
Academic Journal
Sandra D.K. Kingma; Laura K.M. Steinbusch; Sietse M. Aukema; Margje Sinnema; Bianca Panis; Joost Nicolai; Estela Rubio-Gozalbo
Molecular Genetics and Metabolism Reports, Vol 41, Iss , Pp 101159- (2024)
Academic Journal
Reijnders, Margot R.F. ; Seibt, Annette ; Brugger, Melanie ; Lamers, Ideke J.C. ; Ott, Torsten ; Klaas, Oliver ; Horváth, Judit ; Rose, Ailsa M.S. ; Craghill, Isabel M. ; Brunet, Theresa ; Graf, Elisabeth ; Mayerhanser, Katharina ; Hellebrekers, Debby ; Pauck, David ; Neuen-Jacob, Eva ; Rodenburg, Richard J.T. ; Wieczorek, Dagmar ; Klee, Dirk ; Mayatepek, Ertan ; Driessen, Gertjan ; Bindermann, Robert ; Averdunk, Luisa ; Lohmeier, Klaus ; Sinnema, Margje ; Stegmann, Alexander P.A. ; Roepman, Ronald ; Poulter, James A. ; Distelmaier, Felix
In Genetics in Medicine July 2023 25(7)
Academic Journal
Correa-da-Silva, Felipe; Carter, Jenny; Wang, Xin-Yuan; Sun, Rui; Pathak, Ekta; Kuhn, José Manuel Monroy; Schriever, Sonja C.; Maya-Monteiro, Clarissa M.; Jiao, Han; Kalsbeek, Martin J.; Moraes-Vieira, Pedro M. M.; Gille, Johan J. P.; Sinnema, Margje; Stumpel, Constance T. R. M.; Curfs, Leopold M. G.; Stenvers, Dirk Jan; Pfluger, Paul T.; Lutter, Dominik; Pereira, Alberto M.; Kalsbeek, Andries; Fliers, Eric; Swaab, Dick F.; Wilkinson, Lawrence; Gao, Yuanqing; Yi, Chun-Xia
Acta Neuropathologica: Pathology and Mechanisms of Neurological Disease. 147(1)
Academic Journal
Janssen, Etienne J M; Burgers, Melanie; Kerkhof, Gerthe F; Klaassens, Merel; Sinnema, Margje; Geelen, Joyce M
Nederlands Tijdschrift voor Geneeskunde. 168
Academic Journal
Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Abou Jamra, Rami; Oppermann, Henry
The American Journal of Human Genetics. 109:944-952
Academic Journal
Kayumi, Sayaka ; Pérez-Jurado, Luis A. ; Palomares, María ; Rangu, Sneha ; Sheppard, Sarah E. ; Chung, Wendy K. ; Kruer, Michael C. ; Kharbanda, Mira ; Amor, David J. ; McGillivray, George ; Cohen, Julie S. ; García-Miñaúr, Sixto ; van Eyk, Clare L. ; Harper, Kelly ; Jolly, Lachlan A. ; Webber, Dani L. ; Barnett, Christopher P. ; Santos-Simarro, Fernando ; Pacio-Míguez, Marta ; Pozo, Angela del ; Bakhtiari, Somayeh ; Deardorff, Matthew ; Dubbs, Holly A. ; Izumi, Kosuke ; Grand, Katheryn ; Gray, Christopher ; Mark, Paul R. ; Bhoj, Elizabeth J. ; Li, Dong ; Ortiz-Gonzalez, Xilma R. ; Keena, Beth ; Zackai, Elaine H. ; Goldberg, Ethan M. ; Perez de Nanclares, Guiomar ; Pereda, Arrate ; Llano-Rivas, Isabel ; Arroyo, Ignacio ; Fernández-Cuesta, María Ángeles ; Thauvin-Robinet, Christel ; Faivre, Laurence ; Garde, Aurore ; Mazel, Benoit ; Bruel, Ange-Line ; Tress, Michael L. ; Brilstra, Eva ; Fine, Amena Smith ; Crompton, Kylie E. ; Stegmann, Alexander P.A. ; Sinnema, Margje ; Stevens, Servi C.J. ; Nicolai, Joost ; Lesca, Gaetan ; Lion-François, Laurence ; Haye, Damien ; Chatron, Nicolas ; Piton, Amelie ; Nizon, Mathilde ; Cogne, Benjamin ; Srivastava, Siddharth ; Bassetti, Jennifer ; Muss, Candace ; Gripp, Karen W. ; Procopio, Rebecca A. ; Millan, Francisca ; Morrow, Michelle M. ; Assaf, Melissa ; Moreno-De-Luca, Andres ; Joss, Shelagh ; Hamilton, Mark J. ; Bertoli, Marta ; Foulds, Nicola ; McKee, Shane ; MacLennan, Alastair H. ; Gecz, Jozef ; Corbett, Mark A.
In Genetics in Medicine November 2022 24(11):2351-2366
Academic Journal
van der Sanden, Bart P. G. H.; Schobers, Gaby; Corominas Galbany, Jordi; Koolen, David A.; Sinnema, Margje; van Reeuwijk, Jeroen; Stumpel, Connie T. R. M.; Kleefstra, Tjitske; de Vries, Bert B. A.; Ruiterkamp-Versteeg, Martina; Leijsten, Nico; Kwint, Michael; Derks, Ronny; Swinkels, Hilde; den Ouden, Amber; Pfundt, Rolph; Rinne, Tuula; de Leeuw, Nicole; Stegmann, Alexander P.; Stevens, Servi J.; van den Wijngaard, Arthur; Brunner, Han G.; Yntema, Helger G.; Gilissen, Christian; Nelen, Marcel R.; Vissers, Lisenka E. L. M.
European Journal of Human Genetics. 31(1):81-88
Academic Journal
Boone, Philip; Faour, Kamli; Mohajeri, Kiana; Lemanski, John; Jana, Bimal; Fu, Jack; Kerkhof, Jennifer; McConkey, Haley; Collins, Ryan; Lucente, Diane; de Esch, Celine; Moysés-Oliveira, Mariana; Nuttle, Alexander; Domingo, Aloysius; Erdin, Serkan; Hanley, Maris; Watt, Amy; Surette, Eric; Lima, Gloria; Smith, Laura; Salani, Monica; Yadav, Rachita; Harripaul, Ricardo; O’Keefe, Kathryn; Burt, Nicholas; Larson, Matthew; Bhavsar, Riya; Currall, Benjamin; Sell, Susan; Ladda, Roger; Immken, LaDonna; Buchanan, Catherine; Yuan, Bo; Lynch, Sally; Gilissen, Christian; Pfundt, Rolph; Ockeloen, Charlotte; Kleefstra, Tjitske; Vanhoutte, Els; Sinnema, Margje; Stegmann, Sander; Stevens, Servi; Iascone, Maria; Maitz, Silvia; Cogne, Benjamin; Le Caignec, Cedric; Vincent, Marie; Nizon, Mathilde; Male, Alison; Agrawal, Pankaj; Thompson, Michelle; Torring, Pernille; Brasch-Andersen, Charlotte; Faivre, Laurence; Bruel, Ange-Line; Isidor, Bertrand; Philippe, Christophe; Morleo, Manuela; Wojcik, Monica; Genetti, Casie; Srivastava, Siddharth; Ballal, Sonia; Schließke, Sophia; Jamra, Rami Abou; Delahaye, Andree; von Wintzingerode, Lydia; Bothe, Viktoria; Houlier, Marine; Stout, Timothy; Bergant, Gaber; Peterlin, Borut; Moldovan, Oana; Martínez-Gil, Núria; Argilli, Emanuela; Sherr, Elliott; Harel, Tamar; Rosenberg-Fogler, Hallel; Rosenfeld, Jill; Wentzensen, Ingrid; Westphal, Dominik; Riedhammer, Korbinian; Orec, Laura; Gusella, James; Sadikovic, Bekim; Tai, Derek; Talkowski, Michael
Genetics in Medicine Open. 1(1)
Academic Journal
Dingemans, Alexander J. M.; Truijen, Kim M. G.; Kim, Jung-Hyun; Alaçam, Zahide; Faivre, Laurence; Collins, Kathleen M.; Gerkes, Erica H.; van Haelst, Mieke; van de Laar, Ingrid M. B. H.; Lindstrom, Kristin; Nizon, Mathilde; Pauling, James; Heropolitańska-Pliszka, Edyta; Plomp, Astrid S.; Racine, Caroline; Sachdev, Rani; Sinnema, Margje; Skranes, Jon; Veenstra-Knol, Hermine E.; Verberne, Eline A.; Vulto-van Silfhout, Anneke T.; Wilsterman, Marlon E. F.; Ahn, Eun-Young Erin; de Vries, Bert B. A.; Vissers, Lisenka E. L. M.
European Journal of Human Genetics. 30(3):271-281
Academic Journal
Kummeling, Joost; Stremmelaar, Diante E.; Raun, Nicholas; Reijnders, Margot R. F.; Willemsen, Marjolein H.; Ruiterkamp-Versteeg, Martina; Schepens, Marga; Man, Calvin C. O.; Gilissen, Christian; Cho, Megan T.; McWalter, Kirsty; Sinnema, Margje; Wheless, James W.; Simon, Marleen E. H.; Genetti, Casie A.; Casey, Alicia M.; Terhal, Paulien A.; van der Smagt, Jasper J.; van Gassen, Koen L. I.; Joset, Pascal; Bahr, Angela; Steindl, Katharina; Rauch, Anita; Keller, Elmar; Raas-Rothschild, Annick; Koolen, David A.; Agrawal, Pankaj B.; Hoffman, Trevor L.; Powell-Hamilton, Nina N.; Thiffault, Isabelle; Engleman, Kendra; Zhou, Dihong; Bodamer, Olaf; Hoefele, Julia; Riedhammer, Korbinian M.; Schwaibold, Eva M. C.; Tasic, Velibor; Schubert, Dirk; Top, Deniz; Pfundt, Rolph; Higgs, Martin R.; Kramer, Jamie M.; Kleefstra, Tjitske
Molecular Psychiatry. 26(6):2013-2024
Academic Journal
Reijnders, Margot RF; Miller, Kerry A; Alvi, Mohsan; Goos, Jacqueline AC; Lees, Melissa M; de Burca, Anna; Henderson, Alex; Kraus, Alison; Mikat, Barbara; de Vries, Bert BA; Isidor, Bertrand; Kerr, Bronwyn; Marcelis, Carlo; Schluth-Bolard, Caroline; Deshpande, Charu; Ruivenkamp, Claudia AL; Wieczorek, Dagmar; Study, The Deciphering Developmental Disorders; Baralle, Diana; Blair, Edward M; Engels, Hartmut; Lüdecke, Hermann-Josef; Eason, Jacqueline; Santen, Gijs WE; Clayton-Smith, Jill; Chandler, Kate; Tatton-Brown, Katrina; Payne, Katelyn; Helbig, Katherine; Radtke, Kelly; Nugent, Kimberly M; Cremer, Kirsten; Strom, Tim M; Bird, Lynne M; Sinnema, Margje; Bitner-Glindzicz, Maria; van Dooren, Marieke F; Alders, Marielle; Koopmans, Marije; Brick, Lauren; Kozenko, Mariya; Harline, Megan L; Klaassens, Merel; Steinraths, Michelle; Cooper, Nicola S; Edery, Patrick; Yap, Patrick; Terhal, Paulien A; van der Spek, Peter J; Lakeman, Phillis; Taylor, Rachel L; Littlejohn, Rebecca O; Pfundt, Rolph; Mercimek-Andrews, Saadet; Stegmann, Alexander PA; Kant, Sarina G; McLean, Scott; Joss, Shelagh; Swagemakers, Sigrid MA; Douzgou, Sofia; Wall, Steven A; Küry, Sébastien; Calpena, Eduardo; Koelling, Nils; McGowan, Simon J; Twigg, Stephen RF; Mathijssen, Irene MJ; Nellaker, Christoffer; Brunner, Han G; Wilkie, Andrew OM
Am J Hum Genet
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
American Journal of Human Genetics, 102, 6, pp. 1195-1203
Am. J. Hum. Genet. 102, 1195-1203 (2018)
The Deciphering Developmental Disorders Study, Kerr, B, Clayton-Smith, J, Chandler, K & Taylor, R L 2018, 'De Novo and Inherited Loss-of-Function Variants in TLK2 : Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder', American Journal of Human Genetics, vol. 102, no. 6, pp. 1195-1203. https://doi.org/10.1016/j.ajhg.2018.04.014
American Journal of Human Genetics, vol 102, iss 6
Academic Journal
Kim, Jung-Hyun; Park, Eun Young; Chitayat, David; Stachura, David L.; Schaper, Jörg; Lindstrom, Kristin; Jewett, Tamison; Wieczorek, Dagmar; Draaisma, Jos M.; Sinnema, Margje; Hoeberigs, Christianne; Hempel, Maja; Bachman, Kristine K.; Seeley, Andrea H.; Stone, Joshua K.; Kong, Hyun Kyung; Vukadin, Lana; Richard, Alexander; Shinde, Deepali N.; McWalter, Kirsty; Si, Yue Cindy; Douglas, Ganka; Lim, Ssang-Taek; Vissers, Lisenka E.L.M.; Lemaire, Mathieu; Ahn, Eun-Young Erin
Kidney International, 95, 6, pp. 1494-1504
Academic Journal
Correa-da-Silva, Felipe; Berkhout, Jari B.; Schouten, Pim; Sinnema, Margje; Stumpel, Constance T. R. M.; Curfs, Leopold M. G.; Hoybye, Charlotte; Mahfouz, Ahmed; Meijer, Onno C.; Pereira, Alberto M.; Fliers, Eric; Swaab, Dick F.; Kalsbeek, Andries; Yi, Chun-Xia
검색 결과 제한하기
제한된 항목
[검색어] Sinnema, Margje
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어