학술논문
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'학술논문'
에서 검색결과 19건 | 목록
1~20
Academic Journal
Stephenson, Sarah E.M. ; Costain, Gregory ; Blok, Laura E.R. ; Silk, Michael A. ; Nguyen, Thanh Binh ; Dong, Xiaomin ; Alhuzaimi, Dana E. ; Dowling, James J. ; Walker, Susan ; Amburgey, Kimberly ; Hayeems, Robin Z. ; Rodan, Lance H. ; Schwartz, Marc A. ; Picker, Jonathan ; Lynch, Sally A. ; Gupta, Aditi ; Rasmussen, Kristen J. ; Schimmenti, Lisa A. ; Klee, Eric W. ; Niu, Zhiyv ; Agre, Katherine E. ; Chilton, Ilana ; Chung, Wendy K. ; Revah-Politi, Anya ; Au, P.Y. Billie ; Griffith, Christopher ; Racobaldo, Melissa ; Raas-Rothschild, Annick ; Ben Zeev, Bruria ; Barel, Ortal ; Moutton, Sebastien ; Morice-Picard, Fanny ; Carmignac, Virginie ; Cornaton, Jenny ; Marle, Nathalie ; Devinsky, Orrin ; Stimach, Chandler ; Wechsler, Stephanie Burns ; Hainline, Bryan E. ; Sapp, Katie ; Willems, Marjolaine ; Bruel, Ange-line ; Dias, Kerith-Rae ; Evans, Carey-Anne ; Roscioli, Tony ; Sachdev, Rani ; Temple, Suzanna E.L. ; Zhu, Ying ; Baker, Joshua J. ; Scheffer, Ingrid E. ; Gardiner, Fiona J. ; Schneider, Amy L. ; Muir, Alison M. ; Mefford, Heather C. ; Crunk, Amy ; Heise, Elizabeth M. ; Millan, Francisca ; Monaghan, Kristin G. ; Person, Richard ; Rhodes, Lindsay ; Richards, Sarah ; Wentzensen, Ingrid M. ; Cogné, Benjamin ; Isidor, Bertrand ; Nizon, Mathilde ; Vincent, Marie ; Besnard, Thomas ; Piton, Amelie ; Marcelis, Carlo ; Kato, Kohji ; Koyama, Norihisa ; Ogi, Tomoo ; Goh, Elaine Suk-Ying ; Richmond, Christopher ; Amor, David J. ; Boyce, Jessica O. ; Morgan, Angela T. ; Hildebrand, Michael S. ; Kaspi, Antony ; Bahlo, Melanie ; Friðriksdóttir, Rún ; Katrínardóttir, Hildigunnur ; Sulem, Patrick ; Stefánsson, Kári ; Björnsson, Hans Tómas ; Mandelstam, Simone ; Morleo, Manuela ; Mariani, Milena ; Scala, Marcello ; Accogli, Andrea ; Torella, Annalaura ; Capra, Valeria ; Wallis, Mathew ; Jansen, Sandra ; Waisfisz, Quinten ; de Haan, Hugoline ; Sadedin, Simon ; Lim, Sze Chern ; White, Susan M. ; Ascher, David B. ; Schenck, Annette ; Lockhart, Paul J. ; Christodoulou, John ; Tan, Tiong Yang
In The American Journal of Human Genetics 7 April 2022 109(4):601-617
Academic Journal
Sörmann, Janina; Schewe, Marcus; Proks, Peter; Jouen-Tachoire, Thibault; Rao, Shanlin; Riel, Elena B.; Agre, Katherine E.; Begtrup, Amber; Dean, John; Descartes, Maria; Fischer, Jan; Gardham, Alice; Lahner, Carrie; Mark, Paul R.; Muppidi, Srikanth; Pichurin, Pavel N.; Porrmann, Joseph; Schallner, Jens; Smith, Kirstin; Straub, Volker; Vasudevan, Pradeep; Willaert, Rebecca; Carpenter, Elisabeth P.; Rödström, Karin E. J.; Hahn, Michael G.; Müller, Thomas; Baukrowitz, Thomas; Hurles, Matthew E.; Wright, Caroline F.; Tucker, Stephen J.
Nature Genetics. 54(10):1534-1543
Academic Journal
Klee, Eric W. ; Cousin, Margot A. ; Pinto e Vairo, Filippo ; Morales-Rosado, Joel A. ; Macke, Erica L. ; Jenkinson, W. Garrett ; Ferrer, Alejandro ; Schultz-Rogers, Laura E. ; Olson, Rory J. ; Oliver, Gavin R. ; Sigafoos, Ashley N. ; Schwab, Tanya L. ; Zimmermann, Michael T. ; Urrutia, Raul A. ; Kaiwar, Charu ; Gupta, Aditi ; Blackburn, Patrick R. ; Boczek, Nicole J. ; Prochnow, Carri A. ; Lowy, Rebecca J. ; Mulvihill, Lindsay A. ; McAllister, Tammy M. ; Aoudia, Stacy L. ; Kruisselbrink, Teresa M. ; Gunderson, Lauren B. ; Kemppainen, Jennifer L. ; Fisher, Laura J. ; Tarnowski, Jessica M. ; Hager, Megan M. ; Kroc, Sarah A. ; Bertsch, Nicole L. ; Agre, Katherine E. ; Jackson, Jessica L. ; Macklin-Mantia, Sarah K. ; Murphree, Marine I. ; Rust, Laura M. ; Summer Bolster, Jolene M. ; Beck, Scott A. ; Atwal, Paldeep S. ; Ellingson, Marissa S. ; Barnett, Sarah S. ; Rasmussen, Kristen J. ; Lahner, Carrie A. ; Niu, Zhiyv ; Hasadsri, Linda ; Ferber, Matthew J. ; Marcou, Cherisse A. ; Clark, Karl J. ; Pichurin, Pavel N. ; Deyle, David R. ; Morava-Kozicz, Eva ; Gavrilova, Ralitza H. ; Dhamija, Radhika ; Wierenga, Klaas J. ; Lanpher, Brendan C. ; Babovic-Vuksanovic, Dusica ; Farrugia, Gianrico ; Schimmenti, Lisa A. ; Stewart, A. Keith ; Lazaridis, Konstantinos N.
In Genetics in Medicine March 2021 23(3):498-507
Academic Journal
Gupta, Aditi ; Dsouza, Nikita R. ; Zarate, Yuri A. ; Lombardo, Rachel ; Hopkin, Robert ; Linehan, Allison R. ; Simpson, Jamela ; McCarrier, Julie ; Agre, Katherine E. ; Gavrilova, Ralitza H. ; Stephens, Michael C. ; Grothe, Rayna M. ; Monaghan, Kristin G. ; Xie, Yili ; Basel, Donald ; Urrutia, Raul A. ; Cole, Conrad R. ; Klee, Eric W. ; Zimmermann, Michael T.
In European Journal of Medical Genetics April 2020 63(4)
Academic Journal
Bergithe E. Oftedal; Kristian Assing; Safa Baris; Stephanie L. Safgren; Isik S. Johansen; Marianne Antonius Jakobsen; Dusica Babovic-Vuksanovic; Katherine Agre; Eric W. Klee; Emina Majcic; Elise M.N. Ferré; Monica M. Schmitt; Tom DiMaggio; Lindsey B. Rosen; Muhammad Obaidur Rahman; Dionisios Chrysis; Aristeidis Giannakopoulos; Maria Tallon Garcia; Luis Ignacio González-Granado; Katherine Stanley; Jessica Galant-Swafford; Pim Suwannarat; Isabelle Meyts; Michail S. Lionakis; Eystein S. Husebye
iScience, Vol 26, Iss 6, Pp 106818- (2023)
Academic Journal
Nature Reviews Cardiology. May, 2020, Vol. 17 Issue 5, p286, 12 p.
Academic Journal
Lu, Xiaona; Ng, Kim; Pinto e Vairo, Filippo; Collins, James; Cohn, Ronald; Riley, Kacie; Agre, Katherine; Gavrilova, Ralitza; Klee, Eric W.; Rosenfeld, Jill A.; Jiang, Yong-hui
European Journal of Human Genetics. 32(7):879-883
Academic Journal
Fliedner, Anna; Kirchner, Philipp; Wiesener, Antje; van de Beek, Irma; Waisfisz, Quinten; van Haelst, Mieke; Scott, Daryl A; Lalani, Seema R; Rosenfeld, Jill A; Azamian, Mahshid S; Xia, Fan; Dutra-Clarke, Marina; Martinez-Agosto, Julian A; Lee, Hane; Center, UCLA Clinical Genomics; Nelson, Stanley F; Grody, Wayne W; Deignan, Joshua L; Kang, Sung-Hae; Arboleda, Valerie A; Senaratne, T Niroshi; Dorrani, Naghmeh; Dutra-Clarke, Marina S; Kianmahd, Jessica; Hinkamp, Franceska L; Neustadt, Ahna M; Fogel, Brent L; Quintero-Rivera, Fabiola; Noh, Grace J; Lippa, Natalie; Alkelai, Anna; Aggarwal, Vimla; Agre, Katherine E; Gavrilova, Ralitza; Mirzaa, Ghayda M; Straussberg, Rachel; Cohen, Rony; Horist, Brooke; Krishnamurthy, Vidya; McWalter, Kirsty; Juusola, Jane; Davis-Keppen, Laura; Ohden, Lisa; van Slegtenhorst, Marjon; de Man, Stella A; Ekici, Arif B; Gregor, Anne; van de Laar, Ingrid; Zweier, Christiane
American Journal of Human Genetics, vol 107, iss 3
Academic Journal
Szakszon, Katalin; Marques Lourenço, Charles; Callewaert, Bert Louis; Geneviève, David; Rouxel, Flavien; Morin, Denis; Denommé-Pichon, Anne-Sophie; Vitobello, Antonio; Patterson, Wesley G; Louie, Raymond; Pinto E Vairo, Filippo; Klee, Eric; Kaiwar, Charu; Gavrilova, Ralitza; Agre, Katherine; Jacquemont, Sébastien; Khadijé, Jizi; Giltay, Jacques; van Gassen, Koen; Merő, Gabriella; Gerkes, Erica; van Bon, Bregje W; Rinne, Tuula; Pfundt, Rolph; Brunner, Han G.; Caluseriu, Oana; Grasshoff, Ute; Kehrer, Martin; Haack, Tobias; Khelifa, Melik Malek; Bergmann, Anke Katharina; Cueto-González, Anna Maria; Martorell, Ariadna Campos; Ramachandrappa, Shwetha; Sawyer, Lindsey; Fasel, Pascale; Braun, Dominique; Atallah, Isis; Superti-Furga, Andrea; Mcniven, Vanda; Chitayat, David; Ahmed, Syed Anas; Brennenstuhl, Heiko; Schwaibolf, Eva Mc; Battisti, Gladys; Parmentier, Benoit; Stevens, Servi
Journal of Medical Genetics, 61, 2, pp. 132-141
JOURNAL OF MEDICAL GENETICS
JOURNAL OF MEDICAL GENETICS
Academic Journal
Anna Fliedner; Philipp Kirchner; Antje Wiesener; Irma van de Beek; Quinten Waisfisz; Mieke van Haelst; Daryl A. Scott; Seema R. Lalani; Jill A. Rosenfeld; Mahshid S. Azamian; Fan Xia; Marina Dutra-Clarke; Julian A. Martinez-Agosto; Hane Lee; Stanley F. Nelson; Wayne W. Grody; Joshua L. Deignan; Sung-Hae Kang; Valerie A. Arboleda; T. Niroshi Senaratne; Naghmeh Dorrani; Marina S. Dutra-Clarke; Jessica Kianmahd; Franceska L. Hinkamp; Ahna M. Neustadt; Brent L. Fogel; Fabiola Quintero-Rivera; Grace J. Noh; Natalie Lippa; Anna Alkelai; Vimla Aggarwal; Katherine E. Agre; Ralitza Gavrilova; Ghayda M. Mirzaa; Rachel Straussberg; Rony Cohen; Brooke Horist; Vidya Krishnamurthy; Kirsty McWalter; Jane Juusola; Laura Davis-Keppen; Lisa Ohden; Marjon van Slegtenhorst; Stella A. de Man; Arif B. Ekici; Anne Gregor; Ingrid van de Laar; Christiane Zweier
Fliedner, A, Kirchner, P, Wiesener, A, van de Beek, I, Waisfisz, Q, van Haelst, M, Scott, D A, Lalani, S R, Rosenfeld, J A, Azamian, M S, Xia, F, Dutra-Clarke, M, Martinez-Agosto, J A, Lee, H, Noh, G J, Lippa, N, Alkelai, A, Aggarwal, V, Agre , K E , Gavrilova, R, Mirzaa, G M, Straussberg, R, Cohen, R, Horist, B, Krishnamurthy, V, McWalter, K, Juusola, J, Davis-Keppen, L, Ohden, L, van Slegtenhorst, M, de Man, S A, Ekici, A B, Gregor, A, van de Laar, I, Zweier, C & UCLA Clinical Genomics Center 2020, 'Variants in SCAF4 Cause a Neurodevelopmental Disorder and Are Associated with Impaired mRNA Processing', American journal of human genetics, vol. 107, no. 3, pp. 544-554. https://doi.org/10.1016/j.ajhg.2020.06.019
Academic Journal
Kezhi Yan; Justine Rousseau; Keren Machol; Laura A. Cross; Katherine E. Agre; Cynthia Forster Gibson; Anne Goverde; Kendra L. Engleman; Hannah Verdin; Elfride De Baere; Lorraine Potocki; Dihong Zhou; Maxime Cadieux-Dion; Gary A. Bellus; Monisa D. Wagner; Rebecca J. Hale; Natacha Esber; Alan F. Riley; Benjamin D. Solomon; Megan T. Cho; Kirsty McWalter; Roy Eyal; Meagan K. Hainlen; Bryce A. Mendelsohn; Hillary M. Porter; Brendan C. Lanpher; Andrea M. Lewis; Juliann Savatt; Isabelle Thiffault; Bert Callewaert; Philippe M. Campeau; Xiang-Jiao Yang
Sci Adv
SCIENCE ADVANCES
SCIENCE ADVANCES
Academic Journal
Klee, Eric W.; Cousin, Margot A.; Pinto e Vairo, Filippo; Morales-Rosado, Joel A.; Macke, Erica L.; Jenkinson, W. Garrett; Ferrer, Alejandro; Schultz-Rogers, Laura E.; Olson, Rory J.; Oliver, Gavin R.; Sigafoos, Ashley N.; Schwab, Tanya L.; Zimmermann, Michael T.; Urrutia, Raul A.; Kaiwar, Charu; Gupta, Aditi; Blackburn, Patrick R.; Boczek, Nicole J.; Prochnow, Carri A.; Lowy, Rebecca J.; Mulvihill, Lindsay A.; McAllister, Tammy M.; Aoudia, Stacy L.; Kruisselbrink, Teresa M.; Gunderson, Lauren B.; Kemppainen, Jennifer L.; Fisher, Laura J.; Tarnowski, Jessica M.; Hager, Megan M.; Kroc, Sarah A.; Bertsch, Nicole L.; Agre, Katherine E.; Jackson, Jessica L.; Macklin-Mantia, Sarah K.; Murphree, Marine I.; Rust, Laura M.; Summer Bolster, Jolene M.; Beck, Scott A.; Atwal, Paldeep S.; Ellingson, Marissa S.; Barnett, Sarah S.; Rasmussen, Kristen J.; Lahner, Carrie A.; Niu, Zhiyv; Hasadsri, Linda; Ferber, Matthew J.; Marcou, Cherisse A.; Clark, Karl J.; Pichurin, Pavel N.; Deyle, David R.; Morava-Kozicz, Eva; Gavrilova, Ralitza H.; Dhamija, Radhika; Wierenga, Klaas J.; Lanpher, Brendan C.; Babovic-Vuksanovic, Dusica; Farrugia, Gianrico; Schimmenti, Lisa A.; Stewart, A. Keith; Lazaridis, Konstantinos N.
In Genetics in Medicine February 2023 25(2)
Dissertation/ Thesis
Academic Journal
Forget, Bernard G.; Lux, Samuel E.; John, Katherine M.; Tang, Tang K.; Winkelmann, John C.; Watkins, Paul C.; Agre, Peter; Costa, Fernando F.
New England Journal of Medicine. 323:1046-1050
Academic Journal
Jackson, Candace L. ; Huschka, Todd ; Borah, Bijan ; Agre, Katherine ; Zordok, Magdi ; Farwati, Medhat ; Moriarty, James ; Kullo, Iftikhar J.
In American Journal of Preventive Cardiology December 2021 8
Academic Journal
Cogné, Benjamin ; Ehresmann, Sophie ; Beauregard-Lacroix, Eliane ; Rousseau, Justine ; Besnard, Thomas ; Garcia, Thomas ; Petrovski, Slavé ; Avni, Shiri ; McWalter, Kirsty ; Blackburn, Patrick R. ; Sanders, Stephan J. ; Uguen, Kévin ; Harris, Jacqueline ; Cohen, Julie S. ; Blyth, Moira ; Lehman, Anna ; Berg, Jonathan ; Li, Mindy H. ; Kini, Usha ; Joss, Shelagh ; von der Lippe, Charlotte ; Gordon, Christopher T. ; Humberson, Jennifer B. ; Robak, Laurie ; Scott, Daryl A. ; Sutton, Vernon R. ; Skraban, Cara M. ; Johnston, Jennifer J. ; Poduri, Annapurna ; Nordenskjöld, Magnus ; Shashi, Vandana ; Gerkes, Erica H. ; Bongers, Ernie M.H.F. ; Gilissen, Christian ; Zarate, Yuri A. ; Kvarnung, Malin ; Lally, Kevin P. ; Kulch, Peggy A. ; Daniels, Brina ; Hernandez-Garcia, Andres ; Stong, Nicholas ; McGaughran, Julie ; Retterer, Kyle ; Tveten, Kristian ; Sullivan, Jennifer ; Geisheker, Madeleine R. ; Stray-Pedersen, Asbjorg ; Tarpinian, Jennifer M. ; Klee, Eric W. ; Sapp, Julie C. ; Zyskind, Jacob ; Holla, Øystein L. ; Bedoukian, Emma ; Filippini, Francesca ; Guimier, Anne ; Picard, Arnaud ; Busk, Øyvind L. ; Punetha, Jaya ; Pfundt, Rolph ; Lindstrand, Anna ; Nordgren, Ann ; Kalb, Fayth ; Desai, Megha ; Ebanks, Ashley Harmon ; Jhangiani, Shalini N. ; Dewan, Tammie ; Coban Akdemir, Zeynep H. ; Telegrafi, Aida ; Zackai, Elaine H. ; Begtrup, Amber ; Song, Xiaofei ; Toutain, Annick ; Wentzensen, Ingrid M. ; Odent, Sylvie ; Bonneau, Dominique ; Latypova, Xénia ; Deb, Wallid ; Redon, Sylvia ; Bilan, Frédéric ; Legendre, Marine ; Troyer, Caitlin ; Whitlock, Kerri ; Caluseriu, Oana ; Murphree, Marine I. ; Pichurin, Pavel N. ; Agre, Katherine ; Gavrilova, Ralitza ; Rinne, Tuula ; Park, Meredith ; Shain, Catherine ; Heinzen, Erin L. ; Xiao, Rui ; Amiel, Jeanne ; Lyonnet, Stanislas ; Isidor, Bertrand ; Biesecker, Leslie G. ; Lowenstein, Dan ; Posey, Jennifer E. ; Denommé-Pichon, Anne-Sophie ; Férec, Claude ; Yang, Xiang-Jiao ; Rosenfeld, Jill A. ; Gilbert-Dussardier, Brigitte ; Audebert-Bellanger, Séverine ; Redon, Richard ; Stessman, Holly A.F. ; Nellaker, Christoffer ; Yang, Yaping ; Lupski, James R. ; Goldstein, David B. ; Eichler, Evan E. ; Bolduc, Francois ; Bézieau, Stéphane ; Küry, Sébastien ; Campeau, Philippe M.
In The American Journal of Human Genetics 7 March 2019 104(3):530-541
Academic Journal
Cheng, Hanyin ; Dharmadhikari, Avinash V. ; Varland, Sylvia ; Ma, Ning ; Domingo, Deepti ; Kleyner, Robert ; Rope, Alan F. ; Yoon, Margaret ; Stray-Pedersen, Asbjørg ; Posey, Jennifer E. ; Crews, Sarah R. ; Eldomery, Mohammad K. ; Akdemir, Zeynep Coban ; Lewis, Andrea M. ; Sutton, Vernon R. ; Rosenfeld, Jill A. ; Conboy, Erin ; Agre, Katherine ; Xia, Fan ; Walkiewicz, Magdalena ; Longoni, Mauro ; High, Frances A. ; van Slegtenhorst, Marjon A. ; Mancini, Grazia M.S. ; Finnila, Candice R. ; van Haeringen, Arie ; den Hollander, Nicolette ; Ruivenkamp, Claudia ; Naidu, Sakkubai ; Mahida, Sonal ; Palmer, Elizabeth E. ; Murray, Lucinda ; Lim, Derek ; Jayakar, Parul ; Parker, Michael J. ; Giusto, Stefania ; Stracuzzi, Emanuela ; Romano, Corrado ; Beighley, Jennifer S. ; Bernier, Raphael A. ; Küry, Sébastien ; Nizon, Mathilde ; Corbett, Mark A. ; Shaw, Marie ; Gardner, Alison ; Barnett, Christopher ; Armstrong, Ruth ; Kassahn, Karin S. ; Van Dijck, Anke ; Vandeweyer, Geert ; Kleefstra, Tjitske ; Schieving, Jolanda ; Jongmans, Marjolijn J. ; de Vries, Bert B.A. ; Pfundt, Rolph ; Kerr, Bronwyn ; Rojas, Samantha K. ; Boycott, Kym M. ; Person, Richard ; Willaert, Rebecca ; Eichler, Evan E. ; Kooy, R. Frank ; Yang, Yaping ; Wu, Joseph C. ; Lupski, James R. ; Arnesen, Thomas ; Cooper, Gregory M. ; Chung, Wendy K. ; Gecz, Jozef ; Stessman, Holly A.F. ; Meng, Linyan ; Lyon, Gholson J.
In The American Journal of Human Genetics 3 May 2018 102(5):985-994
Academic Journal
Costa, Fernando F.; Agre, Peter; Watkins, Paul C.; Winkelmann, John C.; Tang, Tang K.; John, Katherine M.; Lux, Samuel E.; Forget, Bernard G.
The New England Journal of Medicine. Oct 11, 1990, Vol. v323 Issue n15, p1046, 5 p.
Academic Journal
Costa, Fernando F.; Agre, Peter; Watkins, Paul C.; Winkelmann, John C.; Tang, Tang K.; John, Katherine M.; Lux, Samuel E.; Forget, Bernard G.
The New England Journal of Medicine. Oct 11, 1990 323(15):1046-1050
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[검색어] Agre, Katherine E
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