학술논문
'학술논문'
에서 검색결과 47건 | 목록
1~10
Academic Journal
Pearson, Gail; Stylianou, Mario; Mahony, Lynn; Sleeper, Lynn; Tennstedt, Sharon; Colan, Steven; Klein, Gloria; Guey, Lin; Wruck, Lisa; Travison, Thomas; Chen, Shan; Gerstenberger, Eric; Olesker, Tanya; Teitel, David F.; Newburger, Jane; King, Martha; Dunbar-Masterson, Carolyn; Posa, Andrea; Nang, Quincy; Hass, Cara; Hsu, Daphne; Lai, Wyman; Hellenbrand, William; Printz, Beth; Devereux, Richard; Sherwood, Greysi; Vetter, Victoria; Paridon, Stephen; Gleason, Marie; Mirarchi, Nicole; DiLullo, Sandra; Ejembi, Agbenu; Morgan, Ruth; Benson, D. Woodrow; Border, William; Cnota, James; Heydarian, Haleh; James, Jeanne; Hogan, Kathryn; Bogenschutz, Lois; Benham, Mary Pat; Barnard, Teresa; Anderson, Page A.W.; Li, Jennifer S.; Wechsler, Stephanie Burns; Cook, Amanda; Sang, Charles; Covitz, Wesley; Sutton, Lori Jo; Crawford, Kari; Roberts, Summer; Palmer, Deborah; Saul, J. Philip; Atz, Andrew; Forbus, Geoffrey; Infinger, Patricia; Choudhury, Aparna; Minich, LuAnn; Williams, Richard; Yetman, Angela; Shearrow, Marian; Robinson, Michelle; Porter, June; McCrindle, Brian; Russell, Jennifer; Colman, Jack; Khaikin, Svetlana; Slater, Nancy; Dietz, Harry C.; Ravekes, William J.; Rykiel, Mary; Sparks, Elisabeth; MacCarrick, Gretchen; Leadroot, Jennifer; Canter, Charles; Sharkey, Angela; Braverman, Alan; Rainey, Cheryl; Jefferies, John L.; Slesnick, Timothy; Martinez, Hugo; Menesses, Andres; Tenende, Tunu; Liang, David; Merkel, Elisabeth; Loeys, Bart; De Backer, Julie; Cobben, Jan Maarten; Sluysmans, Thierry; De Paepe, Anne; Gelb, Bruce; Srivastava, Shubhika; Mendiz-Ramdeen, Tejani; Weismann, Constance; Lawrence, Emily; Chin, Stephanie; Ko, Helen; Le Yau, Jen; Webber, Steven; Drant, Stacey; Luce, Jane; Stiegler, Kevin; Kinnard, Cheryl; Stewart, Cheri; Sommers, Sue; Madison, Carol; Young, Luciana; Domenico, Megan; Waitzman, Kathryn; Lozano, Carla; Baker, Charles; Zielinski, Erin; Velden, Heidi Vander; Overman, Alison; Lewin, Mark; Payne, Amy; Rimoin, David; Pariani, Mitchel; Siegel, Robert; Rafique, Asim; Grossfeld, Paul; Smith, Arlene; McLees-Palinkas, Terri; Colan, Steven D.; Tierney, Elif Seda Selamet; Trevey, Shari; Rivera, Marga; Artman, Michael; Austin, Erle; Baldwin, H. Scott; Bernstein, Daniel; Feltes, Timothy; Johnson, Julie; Klitzner, Thomas; Krischer, Jeffrey; Matherne, G. Paul; Zahka, Kenneth G.; Kugler, John; Driscoll, David J.; Galantowicz, Mark; Hunsberger, Sally A.; Knight, Thomas J.; Taylor, Holly; Handisides, Jill C.; Hollenbeck-Pringle, Danielle; Uzark, Karen; Trachtenberg, Felicia L.; Pemberton, Victoria L.; Atz, Teresa W.; Bradley, Timothy J.; Cappella, Elizabeth; De Nobele, Sylvia; Groh, Georgeann Keh-Teng; Hamstra, Michelle S.; Korsin, Rosalind; Levine, Jami C.; Lindauer, Bergen; Liou, Aimee; Neal, Meghan K. Mac; Markham, Larry W.; Morrison, Tonia; Mussatto, Kathleen A.; Olson, Aaron K.; Pierpont, Mary Ella M.; Pyeritz, Reed E.; Radojewski, Elizabeth A.; Roman, Mary J.; Xu, Mingfen; Lacro, Ronald V.
In The Journal of Pediatrics January 2019 204:250-255
De novo variants predicting haploinsufficiency for DIP2C are associated with expressive speech delay
Academic Journal
Ha, Thoa; Morgan, Angela; Bartos, Meghan N.; Beatty, Katelyn; Cogne, Benjamin; Braun, Dominique; Gerber, Celine B.; Gaspar, Harald; Kopps, Anna M.; Rieubland, Claudine; Hurst, Anna C. E.; Amor, David J.; Nizon, Mathilde; Pasquier, Laurent; Pfundt, Rolph; Reis, Andre; Siu, Victoria Mok; Tessarech, Marine; Thompson, Michelle L.; Vincent, Marie; de Vries, Bert B. A.; Walsh, Matthew B.; Wechsler, Stephanie Burns; Zweier, Christiane; Schnur, Rhonda E.; Guillen Sacoto, Maria J.; Margot, Henri; Masotto, Barbara; Palafoll, Maria Irene Valenzuela; Nawaz, Urwah; Voineagu, Irina; Slavotinek, Anne
Academic Journal
Landis, Benjamin J.; Helvaty, Lindsey R.; Geddes, Gabrielle C.; Lin, Jiuann-Huey Ivy; Yatsenko, Svetlana A.; Lo, Cecilia W.; Border, William L.; Wechsler, Stephanie Burns; Murali, Chaya N.; Azamian, Mahshid S.; Lalani, Seema R.; Hinton, Robert B.; Garg, Vidu; McBride, Kim L.; Hodge, Jennelle C.; Ware, Stephanie M.
Journal of the American Heart Association; 9/19/2023, Vol. 12 Issue 18, p1-16, 28p
Academic Journal
Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R; Stray-Pedersen, Asbjorg; Busk, Oyvind L; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D; Scaglia, Fernando; Rosenfeld, Jill A; Tarpinian, Jennifer; Skraban, Cara M; Deardorff, Matthew A; Friedman, Jeremy N; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A; Kranz, Peter G; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; Kansagra, Sujay; Freedman, Sharon; Bali, Deeksha; Millan, Francisca; Bale, Sherri; Nelson, Stanley F; Lee, Hane; Dorrani, Naghmeh; Goldstein, David B; Xiao, Rui; Yang, Yaping; Posey, Jennifer E; Martinez-Agosto, Julian A; Lupski, James R; Wangler, Michael F; Shashi, Vandana; Grody, Wayne W; Strom, Samuel P; Vilain, Eric; Deignan, Joshua; Quintero-Rivera, Fabiola; Kantarci, Sibel; Mullegama, Sureni; Kang, Sung-Hae; Alejandro, Mercedes E; Bacino, Carlos A; Balasubramanyam, Ashok; Burrage, Lindsay C; Clark, Gary D; Craigen, William J; Dhar, Shweta U; Emrick, Lisa T; Graham, Brett H; Hanchard, Neil A; Jain, Mahim; Lalani, Seema R; Lee, Brendan H; Lewis, Richard A; Mashid, Azamian S; Moretti, Paolo M; Nicholas, Sarah K; Orange, Jordan S; Potocki, Lorraine; Scott, Daryl A; Tran, Alyssa A; Bellen, Hugo J; Yamamoto, Shinya; Eng, Christine M; Muzny, Donna M; Ward, Patricia A; Gropman, Andrea L; Jiang, Yong-hui; Pena, Loren DM; Spillmann, Rebecca C; Sullivan, Jennifer A; Walley, Nicole M; Beggs, Alan H; Briere, Lauren C; Cooper, Cynthia M; Donnell-Fink, Laurel A; Krieg, Elizabeth L; Krier, Joel B; Lincoln, Sharyn A
American Journal of Human Genetics. 100(2)
Academic Journal
Murphey, Kristen; George, Paul E.; Pencheva, Bojana; Porter, Christopher C.; Wechsler, Stephanie Burns; Gambello, Michael J.; Li, Hong
American Journal of Medical Genetics. Part A; Sep2022, Vol. 188 Issue 9, p2707-2711, 5p
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
American Journal of Human Genetics. April 7, 2022, Vol. 109 Issue 4, 601
Academic Journal
Alam, Sabikha; Claxton, J'Neka S.; Mortillo, Michael; Sassis, Leandros; Kefala-Karli, Pelagia; Silberbach, Michael; Kochilas, Lazaros; Wechsler, Stephanie Burns
Academic Journal
Pediatric Cardiology. August 2016, Vol. 37 Issue 6, p1046, 11 p.
Academic Journal
Hoskoppal, Arvind; Menon, Shaji; Trachtenberg, Felicia; Burns, Kristin M.; De Backer, Julie; Gelb, Bruce D.; Gleason, Marie; James, Jeanne; Lai, Wyman W.; Liou, Aimee; Mahony, Lynn; Olson, Aaron K.; Pyeritz, Reed E.; Sharkey, Angela M.; Stylianou, Mario; Wechsler, Stephanie Burns; Young, Luciana; Levine, Jami C.; Tierney, Elif Seda Selamet; Lacro, Ronald V.
Academic Journal
Lacro, Ronald V.; Dietz, Harry C.; Sleeper, Lynn A.; Yetman, Anji T.; Bradley, Timothy J.; Colan, Steven D.; Pearson, Gail D.; Selamet Tierney, Seda E.; Levine, Jami C.; Atz, Andrew M.; Benson, Woodrow D.; Braverman, Alan C.; Chen, Shan; De Backer, Julie; Gelb, Bruce D.; Grossfeld, Paul D.; Klein, Gloria L.; Lai, Wyman W.; Liou, Aimee; Loeys, Bart L.; Markham, Larry W.; Olson, Aaron K.; Paridon, Stephen M.; Pemberton, Victoria L.; Pierpont, Mary Ella; Pyeritz, Reed E.; Radojewski, Elizabeth; Roman, Mary J.; Sharkey, Angela M.; Stylianou, Mario P.; Wechsler, Stephanie Burns; Young, Luciana T.; Mahony, Lynn
The New England Journal of Medicine. Nov 27, 2014 371(22):2061-2071
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[AR] Wechsler, Stephanie Burns
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