학술논문
'학술논문'
에서 검색결과 145건 | 목록
1~10
Academic Journal
Caron, Véronique; Chassaing, Nicolas; Ragge, Nicola; Boschann, Felix; Ngu, Angelina My-Hoa; Meloche, Elisabeth; Chorfi, Sarah; Lakhani, Saquib A; Ji, Weizhen; Steiner, Laurie; Marcadier, Julien; Jansen, Philip R; van de Pol, Laura A; van Hagen, Johanna M; Russi, Alvaro Serrano; Le Guyader, Gwenaël; Nordenskjöld, Magnus; Nordgren, Ann; Anderlid, Britt-Marie; Plaisancié, Julie; Stoltenburg, Corinna; Horn, Denise; Drenckhahn, Anne; Hamdan, Fadi F; Lefebvre, Mathilde; Attie-Bitach, Tania; Forey, Peggy; Smirnov, Vasily; Ernould, Françoise; Jacquemont, Marie-Line; Grotto, Sarah; Alcantud, Alberto; Coret, Alicia; Ferrer-Avargues, Rosario; Srivastava, Siddharth; Vincent-Delorme, Catherine; Romoser, Shelby; Safina, Nicole; Saade, Dimah; Lupski, James R; Calame, Daniel G; Geneviève, David; Chatron, Nicolas; Schluth-Bolard, Caroline; Myers, Kenneth A; Dobyns, William B; Calvas, Patrick; Study, The DDD; Salmon, Caroline; Holt, Richard; Elmslie, Frances; Allaire, Marc; Prigozhin, Daniil M; Tremblay, André; Michaud, Jacques L
Genetics in Medicine. 25(8)
Academic Journal
Lima, Ariadne R; Ferreira, Barbara M; Zhang, Chaofan; Jolly, Angad; Du, Haowei; White, Janson J; Dawood, Moez; Lins, Tulio C; Chiabai, Marcela A; Beusekom, Ellen; Cordoba, Mara S; Rosa, Erica CC Caldas; Kayserili, Hulya; Kimonis, Virginia; Wu, Erica; Mellado, Cecilia; Aggarwal, Vineet; Richieri‐Costa, Antonio; Brunoni, Décio; Canó, Talyta M; Jorge, Alexander AL; Kim, Chong A; Honjo, Rachel; Bertola, Débora R; Dandalo‐Girardi, Raissa M; Bayram, Yavuz; Gezdirici, Alper; Yilmaz‐Gulec, Elif; Gumus, Evren; Yilmaz, Gülay C; Okamoto, Nobuhiko; Ohashi, Hirofumi; Coban–Akdemir, Zeynep; Mitani, Tadahiro; Jhangiani, Shalini N; Muzny, Donna M; Regattieri, Neysa AP; Pogue, Robert; Pereira, Rinaldo W; Otto, Paulo A; Gibbs, Richard A; Ali, Bassam R; Bokhoven, Hans; Brunner, Han G; Sutton, V Reid; Lupski, James R; Vianna‐Morgante, Angela M; Carvalho, Claudia MB; Mazzeu, Juliana F
Human Mutation. 43(7)
Academic Journal
Le Coz, Carole; Nguyen, David N; Su, Chun; Nolan, Brian E; Albrecht, Amanda V; Xhani, Suela; Sun, Di; Demaree, Benjamin; Pillarisetti, Piyush; Khanna, Caroline; Wright, Francis; Chen, Peixin Amy; Yoon, Samuel; Stiegler, Amy L; Maurer, Kelly; Garifallou, James P; Rymaszewski, Amy; Kroft, Steven H; Olson, Timothy S; Seif, Alix E; Wertheim, Gerald; Grant, Struan FA; Vo, Linda T; Puck, Jennifer M; Sullivan, Kathleen E; Routes, John M; Zakharova, Viktoria; Shcherbina, Anna; Mukhina, Anna; Rudy, Natasha L; Hurst, Anna CE; Atkinson, T Prescott; Boggon, Titus J; Hakonarson, Hakon; Abate, Adam R; Hajjar, Joud; Nicholas, Sarah K; Lupski, James R; Verbsky, James; Chinn, Ivan K; Gonzalez, Michael V; Wells, Andrew D; Marson, Alex; Poon, Gregory MK; Romberg, Neil
Journal of Experimental Medicine. 218(7)
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 YV; 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; Consortium, Care4Rare Canada; Consortium, Genomics England Research; 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
American Journal of Human Genetics. 108(6)
Academic Journal
Lloyd, KC Kent; Adams, David J; Baynam, Gareth; Beaudet, Arthur L; Bosch, Fatima; Boycott, Kym M; Braun, Robert E; Caulfield, Mark; Cohn, Ronald; Dickinson, Mary E; Dobbie, Michael S; Flenniken, Ann M; Flicek, Paul; Galande, Sanjeev; Gao, Xiang; Grobler, Anne; Heaney, Jason D; Herault, Yann; de Angelis, Martin Hrabě; Lupski, James R; Lyonnet, Stanislas; Mallon, Ann-Marie; Mammano, Fabio; MacRae, Calum A; McInnes, Roderick; McKerlie, Colin; Meehan, Terrence F; Murray, Stephen A; Nutter, Lauryl MJ; Obata, Yuichi; Parkinson, Helen; Pepper, Michael S; Sedlacek, Radislav; Seong, Je Kyung; Shiroishi, Toshihiko; Smedley, Damian; Tocchini-Valentini, Glauco; Valle, David; Wang, Chi-Kuang Leo; Wells, Sara; White, Jacqueline; Wurst, Wolfgang; Xu, Ying; Brown, Steve DM
Genome Biology. 21(1)
Academic Journal
Ngo, Kathie J; Rexach, Jessica E; Lee, Hane; Petty, Lauren E; Perlman, Susan; Valera, Juliana M; Deignan, Joshua L; Mao, Yuanming; Aker, Mamdouh; Posey, Jennifer E; Jhangiani, Shalini N; Coban‐Akdemir, Zeynep H; Boerwinkle, Eric; Muzny, Donna; Nelson, Alexandra B; Hassin‐Baer, Sharon; Poke, Gemma; Neas, Katherine; Geschwind, Michael D; Grody, Wayne W; Gibbs, Richard; Geschwind, Daniel H; Lupski, James R; Below, Jennifer E; Nelson, Stanley F; Fogel, Brent L
Human Mutation. 41(2)
Academic Journal
Link, Nichole; Chung, Hyunglok; Jolly, Angad; Withers, Marjorie; Tepe, Burak; Arenkiel, Benjamin R; Shah, Priya S; Krogan, Nevan J; Aydin, Hatip; Geckinli, Bilgen B; Tos, Tulay; Isikay, Sedat; Tuysuz, Beyhan; Mochida, Ganesh H; Thomas, Ajay X; Clark, Robin D; Mirzaa, Ghayda M; Lupski, James R; Bellen, Hugo J
Developmental Cell. 51(6)
Academic Journal
Simeonov, Dimitre R; Brandt, Alexander J; Chan, Alice Y; Cortez, Jessica T; Li, Zhongmei; Woo, Jonathan M; Lee, Youjin; Carvalho, Claudia MB; Indart, Alyssa C; Roth, Theodore L; Zou, James; May, Andrew P; Lupski, James R; Anderson, Mark S; Buaas, F William; Rokhsar, Daniel S; Marson, Alexander
Communications biology. 2(1)
Academic Journal
Trivellin, Giampaolo; Sharwood, Erin; Hijazi, Hadia; Carvalho, Claudia MB; Yuan, Bo; Tatton-Brown, Katrina; Coman, David; Lupski, James R; Cotterill, Andrew M; Lodish, Maya B; Stratakis, Constantine A
Journal of the Endocrine Society. 2(10)
Academic Journal
Li, Lin; Jiao, Xiaodong; D'Atri, Ilaria; Ono, Fumihito; Nelson, Ralph; Chan, Chi-Chao; Nakaya, Naoki; Ma, Zhiwei; Ma, Yan; Cai, Xiaoying; Zhang, Longhua; Lin, Siying; Hameed, Abdul; Chioza, Barry A; Hardy, Holly; Arno, Gavin; Hull, Sarah; Khan, Muhammad Imran; Fasham, James; Harlalka, Gaurav V; Michaelides, Michel; Moore, Anthony T; Coban Akdemir, Zeynep Hande; Jhangiani, Shalini; Lupski, James R; Cremers, Frans PM; Qamar, Raheel; Salman, Ahmed; Chilton, John; Self, Jay; Ayyagari, Radha; Kabir, Firoz; Naeem, Muhammad Asif; Ali, Muhammad; Akram, Javed; Sieving, Paul A; Riazuddin, Sheikh; Baple, Emma L; Riazuddin, S Amer; Crosby, Andrew H; Hejtmancik, J Fielding
PLoS genetics. 14(8)
검색 결과 제한하기
제한된 항목
[AR] Lupski, James R
발행연도 제한
-
학술DB(Database Provider)
저널명(출판물, Title)
출판사(Publisher)
자료유형(Source Type)
주제어
언어