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 410건 | 목록
1~20
Academic Journal
Luo, Shiyu; Gailus-Durner, Valérie; McGivern, Bobbi; Li, Qifei; Kottmeier, Jessica; Ho, Mai-Lan; Mor-Shaked, Hagar; Elpeleg, Orly; Aref-Eshghi, Erfan; Brodeur, Amanda C.; Schmitz-Abe, Klaus; Genetti, Casie A.; Picker, Jonathan; Shi, Jiahai; Bux, Reem Ibrahim; Ben-Omran, Tawfeg; Fuchs, Helmut; Harel, Tamar; de Angelis, Martin Hrabě; Agrawal, Pankaj B.
European Journal of Human Genetics. 34(1):37-44
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
del Rosario, Maya C.; Walmsley, Sheyenne A.; Harrison, Barbara W.; Stephens, Crystal T.; Zettler, Bethany; Rivera-Cruz, Greysha; Agrawal, Priyal; Brower, Amy; Chigbu, Stephanie; Christensen, Kurt D.; Genetti, Casie A.; Givens, Richetta; Gold, Nina B.; Reeves, Inez V.; Schichter, Isabella; Shariat, Habib; Simon, Sandra; Smith, Hadley Stevens; Uveges, Melissa; Green, Robert C.; Holm, Ingrid A.; Pereira, Stacey
BMC Medical Genomics. January 28, 2026, Vol. 19 Issue 1
Academic Journal
Sagath, Lydia; Kiiski, Kirsi; Naidu, Kireshnee; Patel, Krutik; Jonson, Per Harald; Laarne, Milla; Djordjevic, Djurdja; Yoon, Grace; LaGroon, Anna; Rogers, Curtis; Galindo, Maureen Kelly; Scherer, Katalin; Kunstmann, Erdmute; Koparir, Erkan; Ho, Desirée; Davis, Mark; Joshi, Purwa; Zygmunt, Alexander; Orbach, Rotem; Donkervoort, Sandra; Bönnemann, Carsten G.; Savarese, Marco; Echaniz-Laguna, Andoni; Biancalana, Valérie; Genetti, Casie A.; Iannaccone, Susan T.; Beggs, Alan H.; Wallgren-Pettersson, Carina; Henning, Franclo; Pelin, Katarina; Lehtokari, Vilma-Lotta
European Journal of Human Genetics. :1-10
Academic Journal
Agrawal, Pankaj B.; Beggs, Alan H.; Betting, Wendi N.; Ceyhan-Birsoy, Ozge; Christensen, Kurt D.; Dukhovny, Dmitry; Fayer, Shawn; Frankel, Leslie A.; Genetti, Casie A.; Graham, Chet; Green, Robert C.; Gutierrez, Amanda M.; Harden, Maegan; Holm, Ingrid A.; Krier, Joel B.; Lebo, Matthew S.; Lee, Kaitlyn B.; Levy, Harvey L.; Lu, Xingquan; Machini, Kalotina; McGuire, Amy L.; Murry, Jaclyn B.; Naik, Medha; Nguyen Dolphyn, Tiffany T.; Parad, Richard B.; Peoples, Hayley A.; Pereira, Stacey; Petersen, Devan; Ramamurthy, Uma; Ramanathan, Vivek; Rehm, Heidi L.; Roberts, Amy; Robinson, Jill Oliver; Roumiantsev, Sergei; Schwartz, Talia S.; Smith, Hadley Stevens; Truong, Tina K.; VanNoy, Grace E.; Waisbren, Susan E.; Yu, Timothy W.; Blout Zawatsky, Carrie L.; Zettler, Bethany; Uveges, Melissa K. ; Genetti, Casie
In Genetics in Medicine March 2025 27(3)
Academic Journal
D’Gama, Alissa; Kritzer, Amy; Santana, Andres; Sousa, Anéya; Shenoy, Anjana Bhami; Serna, Anyssa; Verran, Aubrie Soucy; Sinha, Bharati; Genetti, Casie A.; Gupta, Dhruv; Honrubia, Dynio; Dean, Ellen; Shapiro, Faye; Feldman, Henry A.; Gehlsen, Jenifer; Douglas, Jessica; Rhein, Lawrence; Simoncini, Lindsey; Cantu, Luis, Jr.; Ramani, Manimaran; Parker, Margaret; Fuenmayor, Maria Franco; Newsam, Marione Tamase; Martinez, Melinda; Wojcik, Monica H.; Agrawal, Pankaj; Rothstein, Robert; Rahman, Samia Binta; Hills, Sonia; McIntyre-Major, Susan; Yu, Timothy; Allcroft, Tyler; Young, Vanessa; Bhandari, Vineet; D’Gama, Alissa M. ; Parker, Margaret G. ; Yu, Timothy W. ; Agrawal, Pankaj B.
In Genetics in Medicine November 2025 27(11)
Academic Journal
Wojcik, Monica H.; Clark, Robin D.; Elias, Abdallah F.; Genetti, Casie A.; Madden, Jill A.; Simpson, Dana; Golkar, Linda; Zalusky, Miranda P.G.; Miller, Angela L.; Rodriguez, Araceli; Goffena, Joy; Dash, Camille A.; Damaraju, Nikhita; Gibson, Sophia B.; Storz, Sophie H.R.; Anderson, Zachary B.; Gustafson, Jonas A.; Thiffault, Isabelle; Farrow, Emily G.; Pastinen, Tomi; Lin, Jasmine; Huang, Jennifer T.; Beggs, Alan H.; Agrawal, Pankaj B.; Miller, David T.; Miller, Danny E.
Human Genetics and Genomics Advances. 6(3)
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
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
Perrin, Aurélien; Métay, Corinne; Savarese, Marco; Ben Yaou, Rabah; Demidov, German; Nelson, Isabelle; Solé, Guilhem; Péréon, Yann; Bertini, Enrico Silvio; Fattori, Fabiana; d'Amico, Adele; Ricci, Federica; Ginsberg, Mira; Seferian, Andreea; Boespflug-Tanguy, Odile; Servais, Laurent; Chapon, Françoise; Lagrange, Emmeline; Gaudon, Karen; Bloch, Adrien; Ghanem, Robin; Guyant-Maréchal, Lucie; Johari, Mridul; van Goethem, Charles; Fardeau, Michel; Morales, Raul Juntas; Genetti, Casie; Marttila, Minttu; Koenig, Michel; Beggs, Alan; Udd, Bjarne; Bonne, Gisèle; Cossée, Mireille
Journal of Medical Genetics
Academic Journal
Beggs, Alan; Truong, Tina; Shao, Wanqing; Leland, Bryan; Amar, Kshitij; Duz, Mehmet Bugrahan; Edisis, Nathaniel; Genetti, Casie; Jeanne, Médéric; Pradhan, Pratiksha; Rughani, Priyesh; Schierbaum, Luca; Shril, Shirlee; Stubbs, Rebecca; Sud, Malika; Tuyen, Kenney; Tyer, Carly; Tzadikario, Talia; Hickey, Scott; Juul, Sissel; Sliz, Piotr; Wojcik, Monica; Hildebrandt, Friedhelm; Brownstein, Catherine; Jain, Miten; Chung, Wendy
Genetics in Medicine Open. 3
Academic Journal
D'Gama, Alissa; Douglas, Jessica; Hills, Sonia; Wojcik, Monica; Genetti, Casie; Verran, Aubrie; Parker, Margaret; Yu, Timothy; Agrawal, Pankaj
Genetics in Medicine Open. 3
Academic Journal
Smith, Hadley Stevens ; Zettler, Bethany ; Genetti, Casie A. ; Hickingbotham, Madison R. ; Coleman, Tanner F. ; Lebo, Matthew ; Nagy, Anna ; Zouk, Hana ; Mahanta, Lisa ; Christensen, Kurt D. ; Pereira, Stacey ; Shah, Nidhi D. ; Gold, Nina B. ; Walmsley, Sheyenne ; Edwards, Sarita ; Homayouni, Ramin ; Krasan, Graham P. ; Hakonarson, Hakon ; Horowitz, Carol R. ; Gelb, Bruce D. ; Korf, Bruce R. ; McGuire, Amy L. ; Holm, Ingrid A. ; Green, Robert C.
In The American Journal of Human Genetics 3 October 2024 111(10):2094-2106
Academic Journal
Wojcik, Monica; Genetti, Casie; Sud, Malika; Madden, Jill; Garvey, Kathleen; Osei-Owusu, Ikeoluwa; Groussis, Nicole; Al-Husayni, Sundos; Agrawal, Pankaj; Goldstein, Richard; Rehm, Heidi; O'Donnell-Luria, Anne; Beggs, Alan; Holm, Ingrid
Genetics in Medicine Open. 3
Academic Journal
Agrawal, Pankaj; Allcroft, Tyler; Bhandari, Vineet; Brownstein, Catherine; Cantu, Luis, Jr.; D’Gama, Alissa M.; Douglas, Jessica; Feldman, Henry A.; Genetti, Casie A.; Hills, Sonia; Honrubia, Dynio; Kritzer, Amy; Li, Qifei; Parker, Margaret; Rhein, Lawrence; Rothstein, Robert; Salinas, Odalys; Santana, Andres; Schmitz-Abe, Klaus; Serna, Anyssa; Shapiro, Faye; Shenoy, Anjana Bhami; Simoncini, Lindsey; Sinha, Bharati; Verran, Aubrie Soucy; Sousa, Anéya; Tamase Newsam, Marione; Wojcik, Monica H.; Young, Vanessa; Yu, Timothy; Yu, Timothy W. ; Agrawal, Pankaj B. ; Parker, Margaret G.
In Genetics in Medicine September 2024 26(9)
Academic Journal
Inoue, Michio; Jayaraman, Divya; Bengoechea, Rocio; Bhadra, Ankan; Genetti, Casie A.; Aldeeri, Abdulrahman A.; Turan, Betül; Pacheco-Orozco, Rafael Adrian; Al-Maawali, Almundher; Al Hashmi, Nadia; Zamani, Ayşe Gül; Göktaş, Emine; Pekcan, Sevgi; Çağlar, Hanife Tuğçe; True, Heather; Beggs, Alan H.; Weihl, Conrad C.
Acta Neuropathologica Communications. 12(1)
Academic Journal
Töpf, Ana; Cox, Dan; Zaharieva, Irina T.; Di Leo, Valeria; Sarparanta, Jaakko; Jonson, Per Harald; Sealy, Ian M.; Smolnikov, Andrei; White, Richard J.; Vihola, Anna; Savarese, Marco; Merteroglu, Munise; Wali, Neha; Laricchia, Kristen M.; Venturini, Cristina; Vroling, Bas; Stenton, Sarah L.; Cummings, Beryl B.; Harris, Elizabeth; Marini-Bettolo, Chiara; Diaz-Manera, Jordi; Henderson, Matt; Barresi, Rita; Duff, Jennifer; England, Eleina M.; Patrick, Jane; Al-Husayni, Sundos; Biancalana, Valerie; Beggs, Alan H.; Bodi, Istvan; Bommireddipalli, Shobhana; Bönnemann, Carsten G.; Cairns, Anita; Chiew, Mei-Ting; Claeys, Kristl G.; Cooper, Sandra T.; Davis, Mark R.; Donkervoort, Sandra; Erasmus, Corrie E.; Fassad, Mahmoud R.; Genetti, Casie A.; Grosmann, Carla; Jungbluth, Heinz; Kamsteeg, Erik-Jan; Lornage, Xavière; Löscher, Wolfgang N.; Malfatti, Edoardo; Manzur, Adnan; Martí, Pilar; Mongini, Tiziana E.; Muelas, Nuria; Nishikawa, Atsuko; O’Donnell-Luria, Anne; Ogonuki, Narumi; O’Grady, Gina L.; O’Heir, Emily; Paquay, Stéphanie; Phadke, Rahul; Pletcher, Beth A.; Romero, Norma B.; Schouten, Meyke; Shah, Snehal; Smuts, Izelle; Sznajer, Yves; Tasca, Giorgio; Taylor, Robert W.; Tuite, Allysa; Van den Bergh, Peter; VanNoy, Grace; Voermans, Nicol C.; Wanschitz, Julia V.; Wraige, Elizabeth; Yoshimura, Kimihiko; Oates, Emily C.; Nakagawa, Osamu; Nishino, Ichizo; Laporte, Jocelyn; Vilchez, Juan J.; MacArthur, Daniel G.; Sarkozy, Anna; Cordell, Heather J.; Udd, Bjarne; Busch-Nentwich, Elisabeth M.; Muntoni, Francesco; Straub, Volker
Nature Genetics. 56(3):395-407
Academic Journal
Lemire, Gabrielle ; Sanchis-Juan, Alba ; Russell, Kathryn ; Baxter, Samantha ; Chao, Katherine R. ; Singer-Berk, Moriel ; Groopman, Emily ; Wong, Isaac ; England, Eleina ; Goodrich, Julia ; Pais, Lynn ; Austin-Tse, Christina ; DiTroia, Stephanie ; O’Heir, Emily ; Ganesh, Vijay S. ; Wojcik, Monica H. ; Evangelista, Emily ; Snow, Hana ; Osei-Owusu, Ikeoluwa ; Fu, Jack ; Singh, Mugdha ; Mostovoy, Yulia ; Huang, Steve ; Garimella, Kiran ; Kirkham, Samantha L. ; Neil, Jennifer E. ; Shao, Diane D. ; Walsh, Christopher A. ; Argilli, Emanuela ; Le, Carolyn ; Sherr, Elliott H. ; Gleeson, Joseph G. ; Shril, Shirlee ; Schneider, Ronen ; Hildebrandt, Friedhelm ; Sankaran, Vijay G. ; Madden, Jill A. ; Genetti, Casie A. ; Beggs, Alan H. ; Agrawal, Pankaj B. ; Bujakowska, Kinga M. ; Place, Emily ; Pierce, Eric A. ; Donkervoort, Sandra ; Bönnemann, Carsten G. ; Gallacher, Lyndon ; Stark, Zornitza ; Tan, Tiong Yang ; White, Susan M. ; Töpf, Ana ; Straub, Volker ; Fleming, Mark D. ; Pollak, Martin R. ; Õunap, Katrin ; Pajusalu, Sander ; Donald, Kirsten A. ; Bruwer, Zandre ; Ravenscroft, Gianina ; Laing, Nigel G. ; MacArthur, Daniel G. ; Rehm, Heidi L. ; Talkowski, Michael E. ; Brand, Harrison ; O’Donnell-Luria, Anne
In The American Journal of Human Genetics 2 May 2024 111(5):863-876
Academic Journal
Agrawal, Pankaj; Armstrong Scott, Daryl; Barkoudah, Elizabeth; Bellini, Melissa; Beneteau, Claire; Bjørgo, Kathrine; Brooks, Alice; Brown, Natasha; Castle, Alison; Castro, Diana; Chorin, Odelia; Cleghorn, Mark; Clement, Emma; Coman, David; Costin, Carrie; Devriendt, Koen; Dong, Dexin; Dries, Annika; Duelund Hjortshøj, Tina; Dyment, David; Eng, Christine; Genetti, Casie; Grano, Siera; Henneman, Peter; Heron, Delphine; Hoffmann, Katrin; Hom, Jason; Du, Haowei; Iascone, Maria; Isidor, Bertrand; Järvelä, Irma E.; Jones, Julie; Keren, Boris; Koenig, Mary Kay; Kohlhase, Jürgen; Lalani, Seema; Le Caignec, Cedric; Lewis, Andi; Liu, Pengfei; Lovgren, Alysia; Lupski, James R.; Lyons, Mike; Lysy, Philippe; Manning, Melanie; Marcelis, Carlo; McLean, Scott Douglas; Mercie, Sandra; Mertens, Mareike; Molin, Arnaud; Nizon, Mathilde; Nugent, Kimberly Margaret; Öhman, Susanna; O'Leary, Melanie; Okashah Littlejohn, Rebecca; Petit, Florence; Pfundt, Rolph; Pottocki, Lorraine; Raas-Rotschild, Annick; Ranguin, Kara; Revencu, Nicole; Rosenfeld, Jill; Rhodes, Lindsay; Santos Simmaro, Fernando; Sals, Karen; Schieving, Jolanda; Schrauwen, Isabelle; Schuurs-Hoeijmakers, Janneke H.M.; Seaby, Eleanor G.; Sheffer, Ruth; Snijders Blok, Lot; Sørensen, Kristina P.; Srivastava, Siddharth; Stark, Zornitza; Stoeva, Radka; Stutterd, Chloe; Tan, Natalie B.; Mathiesen Torring, Pernille; Vanakker, Olivier; van der Laan, Liselot; Ververi, Athina; Villavicencio-Lorini, Pablo; Vincent, Marie; Wand, Dorothea; Wessels, Marja; White, Sue; Wojcik, Monica H.; Wu, Nan; Zhao, Sen; Pérez Baca, María del Rocío ; Jacobs, Eva Z. ; Vantomme, Lies ; Leblanc, Pontus ; Bogaert, Elke ; Dheedene, Annelies ; De Cock, Laurenz ; Haghshenas, Sadegheh ; Foroutan, Aidin ; Levy, Michael A. ; Kerkhof, Jennifer ; McConkey, Haley ; Chen, Chun-An ; Batzir, Nurit Assia ; Wang, Xia ; Palomares, María ; Carels, Marieke ; Dermaut, Bart ; Sadikovic, Bekim ; Menten, Björn ; Yuan, Bo ; Vergult, Sarah ; Callewaert, Bert
In The American Journal of Human Genetics 7 March 2024 111(3):509-528
Academic Journal
Paul, Maimuna S; Duncan, Anna R; Genetti, Casie A; Pan, Hongling; Jackson, Adam; Grant, Patricia E; Shi, Jiahai; Pinelli, Michele; Brunetti-Pierri, Nicola; Garza-Flores, Alexandra; Shahani, Dave; Saneto, Russell P; Zampino, Giuseppe; Leoni, Chiara; Agolini, Emanuele; Novelli, Antonio; Blümlein, Ulrike; Haack, Tobias B; Heinritz, Wolfram; Matzker, Eva; Alhaddad, Bader; Abou Jamra, Rami; Bartolomaeus, Tobias; AlHamdan, Saber; Carapito, Raphael; Isidor, Bertrand; Bahram, Seiamak; Ritter, Alyssa; Izumi, Kosuke; Shakked, Ben Pode; Barel, Ortal; Ben Zeev, Bruria; Begtrup, Amber; Carere, Deanna Alexis; Mullegama, Sureni V; Palculict, Timothy Blake; Calame, Daniel G; Schwan, Katharina; Aycinena, Alicia R P; Traberg, Rasa; Genomics England Research Consortium; Douzgou, Sofia; Pirt, Harrison; Ismayilova, Naila; Banka, Siddharth; Chao, Hsiao-Tuan; Agrawal, Pankaj B
Genomics England Research Consortium 2023, 'Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy', American Journal of Human Genetics, vol. 110, no. 1, pp. 120-145. https://doi.org/10.1016/j.ajhg.2022.11.011
검색 결과 제한하기
제한된 항목
[검색어] Genetti, Casie A
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어